A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694548



Internal ID15431200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:86747195..86767596hg38UCSC Ensembl
Innerchr2:86974318..86994719hg19UCSC Ensembl
Innerchr2:86827829..86848230hg18UCSC Ensembl
Innerchr2:86885976..86906377hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3820402
hg1920402
hg1820402
hg1720402
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521780
Supporting Variants
Samples
Known GenesRMND5A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694548
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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