A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704160



Internal ID15440812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:25044920..25049120hg38UCSC Ensembl
Innerchr14:25514126..25518326hg19UCSC Ensembl
Innerchr14:24583966..24588166hg18UCSC Ensembl
Innerchr14:24583966..24588166hg17UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg384201
hg194201
hg184201
hg174201
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527684
Supporting Variants
Samples
Known GenesSTXBP6
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704160
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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