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dbVar

Database of genomic structural variation

nsv6137753

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:138,696

Description:NC_000002.12:g.2281453_2420148del AND Intellectual disability, autosomal dominant 39

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: 367 SVs from 53 studies. See in: genome view

Submitted genomic2,281,453-2,420,148

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6137753	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	2,281,453	2,420,148
nsv6137753	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	2,285,225	2,423,920

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17683494	deletion	Multiple	Multiple	MENTAL RETARDATION, AUTOSOMAL DOMINANT 39; MRD39; Mental retardation, autosomal dominant 39; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV001591634.1, VCV001213685.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17683494	Submitted genomic		NC_000002.12:g.228 1453_2420148del	GRCh38 (hg38)		NC_000002.12	Chr2	2,281,453	2,420,148
nssv17683494	Remapped	Perfect	NC_000002.11:g.228 5225_2423920del	GRCh37.p13	First Pass	NC_000002.11	Chr2	2,285,225	2,423,920

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
nssv17683494	GRCh38: NC_000002.12:g.2281453_2420148del	deletion	germline	MENTAL RETARDATION, AUTOSOMAL DOMINANT 39; MRD39; Mental retardation, autosomal dominant 39; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV001591634.1, VCV001213685.1

No genotype data were submitted for this variant

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