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dbVar

Database of genomic structural variation

nsv7097938

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:976,294

Description:
See descriptions for individual calls in download files
Publication(s):Kleefstra et al. 2010, Platzer et al. 2019

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: 5027 SVs from 109 studies. See in: genome view

Remapped(Score: Perfect):137,145,706-138,121,999

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7097938	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	137,145,706	138,121,999
nsv7097938	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	140,040,158	141,016,451

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18788715	deletion	Multiple	Multiple	GRIN1-Related Neurodevelopmental Disorder; NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	Uncertain significance	ClinVar	RCV003109674.2, VCV002425750.4
nssv18790702	deletion	Multiple	Multiple	KLEEFSTRA SYNDROME 1; KLEFS1; Kleefstra Syndrome; Kleefstra syndrome; Kleefstra syndrome 1	Pathogenic	ClinVar	RCV003116549.2, VCV002425750.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18788715	Remapped	Perfect	NC_000009.12:g.(?_ 137145706)_(138121 999_?)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	137,145,706	138,121,999
nssv18790702	Remapped	Perfect	NC_000009.12:g.(?_ 137145706)_(138121 999_?)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	137,145,706	138,121,999
nssv18788715	Submitted genomic		NC_000009.11:g.(?_ 140040158)_(141016 451_?)del	GRCh37 (hg19)		NC_000009.11	Chr9	140,040,158	141,016,451
nssv18790702	Submitted genomic		NC_000009.11:g.(?_ 140040158)_(141016 451_?)del	GRCh37 (hg19)		NC_000009.11	Chr9	140,040,158	141,016,451

No validation data were submitted for this variant

Clinical Assertions There exist variant calls with the same type and copy number with different clinical interpretation.

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18788715	GRCh37: NC_000009.11:g.(?_140040158)_(141016451_?)del	deletion	germline	GRIN1-Related Neurodevelopmental Disorder; NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	Uncertain significance	ClinVar	RCV003109674.2, VCV002425750.4
nssv18790702	GRCh37: NC_000009.11:g.(?_140040158)_(141016451_?)del	deletion	germline	KLEEFSTRA SYNDROME 1; KLEFS1; Kleefstra Syndrome; Kleefstra syndrome; Kleefstra syndrome 1	Pathogenic	ClinVar	RCV003116549.2, VCV002425750.4

No genotype data were submitted for this variant

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