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dbVar

Database of genomic structural variation

nsv5380796

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:106,688,376

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: 274163 SVs from 151 studies. See in: genome view

Remapped(Score: Good):11,814,022-118,502,397

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv5380796	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	11,814,022	11,814,022	118,502,397	118,502,397
nsv5380796	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	11,835,569	118,359,328	118,372,573	118,373,112

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16867095	deletion	Multiple	Multiple	Intellectual Disability; Intellectual disability; Intellectual disability	Pathogenic	ClinVar	RCV001293382.2, VCV000997825.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv16867095	Remapped	Good	NC_000011.10:g.(11 814022_11814022)_( 118502397_11850239 7)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	11,814,022	11,814,022	118,502,397	118,502,397
nssv16867095	Submitted genomic		NC_000011.9:g.(118 35569_118359328)_( 118372573_11837311 2)del	GRCh37 (hg19)		NC_000011.9	Chr11	11,835,569	118,359,328	118,372,573	118,373,112

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
nssv16867095	GRCh37: NC_000011.9:g.(11835569_118359328)_(118372573_118373112)del	deletion	de novo	Intellectual Disability; Intellectual disability; Intellectual disability	Pathogenic	ClinVar	RCV001293382.2, VCV000997825.1	1

No genotype data were submitted for this variant

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