A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694399



Internal ID15431051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:113230111..113238736hg38UCSC Ensembl
Innerchr1:113772733..113781358hg19UCSC Ensembl
Innerchr1:113574256..113582881hg18UCSC Ensembl
Innerchr1:113484775..113493400hg17UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg388626
hg198626
hg188626
hg178626
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520749
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694399
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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