Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv6314427

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:complex chromosomal rearrangement
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Description:
46;XY;t(3;18)(q13.31;q22.1)dn AND multiple conditions
Publication(s):Manickam et al. 2021, Michelson et al. 2011, Redin et al. 2016

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 102 SVs from 25 studies. See in: genome view

Remapped(Score: Perfect):114,729,072-114,729,072

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314427	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	114,729,072	114,729,072	+
nsv6314427	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	114,729,075	114,729,075	+
nsv6314427	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	68,022,824	68,022,824	+
nsv6314427	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	68,022,825	68,022,825	+
nsv6314427	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	114,447,919	114,447,919	+
nsv6314427	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	114,447,922	114,447,922	+
nsv6314427	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	65,690,061	65,690,061	+
nsv6314427	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	65,690,062	65,690,062	+

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17968609	interchromosomal translocation	Multiple	Multiple	ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Abnormal emotion/affect behavior; Abnormal emotion/affect behavior; Abnormal facial shape; Abnormal facial shape; Anteverted ears; Anteverted ears; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Atypical behavior; Autistic behavior; Autistic behavior; Behavioral abnormality; Brachycephaly; Brachycephaly; Brisk reflexes; Brisk reflexes; Chronic diarrhea; Chronic diarrhea; Delayed speech and language development; Delayed speech and language development; Downslanted palpebral fissures; Downslanted palpebral fissures; Feeding difficulties; Feeding difficulties; Feeding difficulties in infancy; Feeding difficulties in infancy; Global developmental delay; Global developmental delay; High, narrow palate; High, narrow palate; Hypotonia; Inflexible adherence to routines; Inflexible adherence to routines or rituals; Intention tremor; Intention tremor; Microcephaly; Microcephaly; Muscular hypotonia; Oligohydramnios; Oligohydramnios; Poor speech; Poor speech; Prominent nasal bridge; Prominent nasal bridge; Protruding ear; Protruding ear; Psychosis; Psychosis; Severe failure to thrive; Severe failure to thrive; Short philtrum; Short philtrum; Specific learning disability; Specific learning disability; Stereotypy; Thin upper lip vermilion; Thin upper lip vermilion; Tics; Tics	Pathogenic	ClinVar	RCV000258518.2, VCV000268039.1
nssv17968610	interchromosomal translocation	Multiple	Multiple	ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Abnormal emotion/affect behavior; Abnormal emotion/affect behavior; Abnormal facial shape; Abnormal facial shape; Anteverted ears; Anteverted ears; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Atypical behavior; Autistic behavior; Autistic behavior; Behavioral abnormality; Brachycephaly; Brachycephaly; Brisk reflexes; Brisk reflexes; Chronic diarrhea; Chronic diarrhea; Delayed speech and language development; Delayed speech and language development; Downslanted palpebral fissures; Downslanted palpebral fissures; Feeding difficulties; Feeding difficulties; Feeding difficulties in infancy; Feeding difficulties in infancy; Global developmental delay; Global developmental delay; High, narrow palate; High, narrow palate; Hypotonia; Inflexible adherence to routines; Inflexible adherence to routines or rituals; Intention tremor; Intention tremor; Microcephaly; Microcephaly; Muscular hypotonia; Oligohydramnios; Oligohydramnios; Poor speech; Poor speech; Prominent nasal bridge; Prominent nasal bridge; Protruding ear; Protruding ear; Psychosis; Psychosis; Severe failure to thrive; Severe failure to thrive; Short philtrum; Short philtrum; Specific learning disability; Specific learning disability; Stereotypy; Thin upper lip vermilion; Thin upper lip vermilion; Tics; Tics	Pathogenic	ClinVar	RCV000258518.2, VCV000268039.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv17968609	Remapped	Perfect	GRCh38.p12	First Pass	NC_000003.12	Chr3	114,729,072	114,729,072	+
nssv17968610	Remapped	Perfect	GRCh38.p12	First Pass	NC_000003.12	Chr3	114,729,075	114,729,075	+
nssv17968609	Remapped	Perfect	GRCh38.p12	First Pass	NC_000018.10	Chr18	68,022,824	68,022,824	+
nssv17968610	Remapped	Perfect	GRCh38.p12	First Pass	NC_000018.10	Chr18	68,022,825	68,022,825	+
nssv17968609	Submitted genomic		GRCh37 (hg19)		NC_000003.11	Chr3	114,447,919	114,447,919	+
nssv17968610	Submitted genomic		GRCh37 (hg19)		NC_000003.11	Chr3	114,447,922	114,447,922	+
nssv17968609	Submitted genomic		GRCh37 (hg19)		NC_000018.9	Chr18	65,690,061	65,690,061	+
nssv17968610	Submitted genomic		GRCh37 (hg19)		NC_000018.9	Chr18	65,690,062	65,690,062	+

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17968609	interchromosomal translocation	de novo	ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Abnormal emotion/affect behavior; Abnormal emotion/affect behavior; Abnormal facial shape; Abnormal facial shape; Anteverted ears; Anteverted ears; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Atypical behavior; Autistic behavior; Autistic behavior; Behavioral abnormality; Brachycephaly; Brachycephaly; Brisk reflexes; Brisk reflexes; Chronic diarrhea; Chronic diarrhea; Delayed speech and language development; Delayed speech and language development; Downslanted palpebral fissures; Downslanted palpebral fissures; Feeding difficulties; Feeding difficulties; Feeding difficulties in infancy; Feeding difficulties in infancy; Global developmental delay; Global developmental delay; High, narrow palate; High, narrow palate; Hypotonia; Inflexible adherence to routines; Inflexible adherence to routines or rituals; Intention tremor; Intention tremor; Microcephaly; Microcephaly; Muscular hypotonia; Oligohydramnios; Oligohydramnios; Poor speech; Poor speech; Prominent nasal bridge; Prominent nasal bridge; Protruding ear; Protruding ear; Psychosis; Psychosis; Severe failure to thrive; Severe failure to thrive; Short philtrum; Short philtrum; Specific learning disability; Specific learning disability; Stereotypy; Thin upper lip vermilion; Thin upper lip vermilion; Tics; Tics	Pathogenic	ClinVar	RCV000258518.2, VCV000268039.1
nssv17968610	interchromosomal translocation	de novo	ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Abnormal emotion/affect behavior; Abnormal emotion/affect behavior; Abnormal facial shape; Abnormal facial shape; Anteverted ears; Anteverted ears; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Atypical behavior; Autistic behavior; Autistic behavior; Behavioral abnormality; Brachycephaly; Brachycephaly; Brisk reflexes; Brisk reflexes; Chronic diarrhea; Chronic diarrhea; Delayed speech and language development; Delayed speech and language development; Downslanted palpebral fissures; Downslanted palpebral fissures; Feeding difficulties; Feeding difficulties; Feeding difficulties in infancy; Feeding difficulties in infancy; Global developmental delay; Global developmental delay; High, narrow palate; High, narrow palate; Hypotonia; Inflexible adherence to routines; Inflexible adherence to routines or rituals; Intention tremor; Intention tremor; Microcephaly; Microcephaly; Muscular hypotonia; Oligohydramnios; Oligohydramnios; Poor speech; Poor speech; Prominent nasal bridge; Prominent nasal bridge; Protruding ear; Protruding ear; Psychosis; Psychosis; Severe failure to thrive; Severe failure to thrive; Short philtrum; Short philtrum; Specific learning disability; Specific learning disability; Stereotypy; Thin upper lip vermilion; Thin upper lip vermilion; Tics; Tics	Pathogenic	ClinVar	RCV000258518.2, VCV000268039.1

No genotype data were submitted for this variant

You are here: NCBI