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dbVar

Database of genomic structural variation

nsv4681134

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:54,183

Description:
See descriptions for individual calls in download files
Publication(s):Mullegama et al. 2016

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: 190 SVs from 41 studies. See in: genome view

Remapped(Score: Perfect):148,458,759-148,512,941

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4681134	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	148,458,759	148,512,941
nsv4681134	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	149,216,328	149,270,510

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16211781	deletion	Multiple	Multiple	2q23.1 microdeletion syndrome; MBD5 Haploinsufficiency; MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1; Mental retardation, autosomal dominant 1; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV001031081.1, VCV000830448.1
nssv17976130	duplication	Multiple	Multiple	2q23.1 microdeletion syndrome; MBD5 Haploinsufficiency; MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1; Mental retardation, autosomal dominant 1; See individual phenotypes in OMIM allelic variants	Likely benign	ClinVar	RCV002129396.5, VCV001597769.6

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16211781	Remapped	Perfect	NC_000002.12:g.(?_ 148458759)_(148512 941_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	148,458,759	148,512,941
nssv17976130	Remapped	Perfect	NC_000002.12:g.(?_ 148458759)_(148512 941_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	148,458,759	148,512,941
nssv16211781	Submitted genomic		NC_000002.11:g.(?_ 149216328)_(149270 510_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	149,216,328	149,270,510
nssv17976130	Submitted genomic		NC_000002.11:g.(?_ 149216328)_(149270 510_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	149,216,328	149,270,510

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
nssv16211781	GRCh37: NC_000002.11:g.(?_149216328)_(149270510_?)del	deletion	germline	2q23.1 microdeletion syndrome; MBD5 Haploinsufficiency; MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1; Mental retardation, autosomal dominant 1; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV001031081.1, VCV000830448.1
nssv17976130	GRCh37: NC_000002.11:g.(?_149216328)_(149270510_?)dup	duplication	germline	2q23.1 microdeletion syndrome; MBD5 Haploinsufficiency; MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1; Mental retardation, autosomal dominant 1; See individual phenotypes in OMIM allelic variants	Likely benign	ClinVar	RCV002129396.5, VCV001597769.6

No genotype data were submitted for this variant

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