A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704085



Internal ID15440737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:158198773..158200756hg38UCSC Ensembl
Innerchr1:158168563..158170546hg19UCSC Ensembl
Innerchr1:156435187..156437170hg18UCSC Ensembl
Innerchr1:154981636..154983619hg17UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg381984
hg191984
hg181984
hg171984
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527619
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704085
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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