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dbVar

Database of genomic structural variation

nsv5381561

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:9,364,517

Description:Single allele AND Intellectual disability
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: 22077 SVs from 122 studies. See in: genome view

Remapped(Score: Perfect):95,072,291-104,436,807

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5381561	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	95,072,291	104,436,807
nsv5381561	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	97,834,573	107,199,088

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16865887	deletion	Multiple	Multiple	Intellectual Disability; Intellectual disability; Intellectual disability	Pathogenic	ClinVar	RCV001293373.2, VCV000997816.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16865887	Remapped	Perfect	NC_000009.12:g.950 72291_104436807del	GRCh38.p12	First Pass	NC_000009.12	Chr9	95,072,291	104,436,807
nssv16865887	Submitted genomic		NC_000009.11:g.978 34573_107199088del	GRCh37 (hg19)		NC_000009.11	Chr9	97,834,573	107,199,088

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
nssv16865887	GRCh37: NC_000009.11:g.97834573_107199088del	deletion	de novo	Intellectual Disability; Intellectual disability; Intellectual disability	Pathogenic	ClinVar	RCV001293373.2, VCV000997816.1	1

No genotype data were submitted for this variant

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