A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704815



Internal ID15441467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:204195563..204196915hg38UCSC Ensembl
Innerchr1:204164691..204166043hg19UCSC Ensembl
Innerchr1:202431314..202432666hg18UCSC Ensembl
Innerchr1:200896348..200897700hg17UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381353
hg191353
hg181353
hg171353
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528249
Supporting Variants
Samples
Known GenesKISS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704815
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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