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dbVar

Database of genomic structural variation

nsv6314476

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:translocation
Method Type:Multiple
Submitted on:GRCh37

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

Description:
46;XY;t(4;7)(q31;q22)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: 111 SVs from 38 studies. See in: genome view

Remapped(Score: Perfect):120,216,282-120,216,282

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314476	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	120,216,282	120,216,282	+
nsv6314476	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	81,477,505	81,477,505	+
nsv6314476	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187544.1	Chr4\|NT_18 7544.1	52,099	52,099	+
nsv6314476	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	121,137,437	121,137,437	+
nsv6314476	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	81,106,821	81,106,821	+

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975424	interchromosomal translocation	Multiple	Multiple	ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Abnormal emotion/affect behavior; Abnormal emotion/affect behavior; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Autistic behavior; Autistic behavior; Cafe-au-lait spot; Cafe-au-lait spot; Delayed speech and language development; Delayed speech and language development; Feeding difficulties; Feeding difficulties; Global developmental delay; Global developmental delay; Motor delay; Motor delay; Oppositional defiant disorder; Oppositional defiant disorder	Uncertain significance	ClinVar	RCV000258595.2, VCV000267911.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv17975424	Remapped	Perfect	GRCh38.p12	Second Pass	NT_187544.1	Chr4\|NT_18 7544.1	52,099	52,099	+
nssv17975424	Remapped	Perfect	GRCh38.p12	First Pass	NC_000004.12	Chr4	120,216,282	120,216,282	+
nssv17975424	Remapped	Perfect	GRCh38.p12	First Pass	NC_000007.14	Chr7	81,477,505	81,477,505	+
nssv17975424	Submitted genomic		GRCh37 (hg19)		NC_000004.11	Chr4	121,137,437	121,137,437	+
nssv17975424	Submitted genomic		GRCh37 (hg19)		NC_000007.13	Chr7	81,106,821	81,106,821	+

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
nssv17975424	interchromosomal translocation	de novo	ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Abnormal emotion/affect behavior; Abnormal emotion/affect behavior; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Autistic behavior; Autistic behavior; Cafe-au-lait spot; Cafe-au-lait spot; Delayed speech and language development; Delayed speech and language development; Feeding difficulties; Feeding difficulties; Global developmental delay; Global developmental delay; Motor delay; Motor delay; Oppositional defiant disorder; Oppositional defiant disorder	Uncertain significance	ClinVar	RCV000258595.2, VCV000267911.1

No genotype data were submitted for this variant

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