A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705564



Internal ID15095530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:114876400..115048377hg38UCSC Ensembl
Innerchr1:115419021..115590998hg19UCSC Ensembl
Innerchr1:115220544..115392521hg18UCSC Ensembl
Innerchr1:115131063..115303040hg17UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38171978
hg19171978
hg18171978
hg17171978
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528883
Supporting Variants
Samples
Known GenesSYCP1, TSHB, TSPAN2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705564
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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