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dbVar

Database of genomic structural variation

nsv5381736

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:1,302,344

Description:Single allele AND multiple conditions
Publication(s):Manickam et al. 2021, Michelson et al. 2011, Moeschler et al. 2014, Shao et al. 2021

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: 6839 SVs from 113 studies. See in: genome view

Remapped(Score: Perfect):136,869,696-138,172,039

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5381736	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	136,869,696	138,172,039
nsv5381736	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	139,764,148	141,066,491

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16865893	deletion	Multiple	Multiple	Epilepsy; Intellectual Disability; Intellectual disability; Intellectual disability; Seizure Disorders	Pathogenic	ClinVar	RCV001293379.2, VCV000997822.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16865893	Remapped	Perfect	NC_000009.12:g.136 869696_138172039de l	GRCh38.p12	First Pass	NC_000009.12	Chr9	136,869,696	138,172,039
nssv16865893	Submitted genomic		NC_000009.11:g.139 764148_141066491de l	GRCh37 (hg19)		NC_000009.11	Chr9	139,764,148	141,066,491

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16865893	GRCh37: NC_000009.11:g.139764148_141066491del	deletion	de novo	Epilepsy; Intellectual Disability; Intellectual disability; Intellectual disability; Seizure Disorders	Pathogenic	ClinVar	RCV001293379.2, VCV000997822.1	1

No genotype data were submitted for this variant

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