A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527789



Internal ID15108396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232436106..232533505hg38UCSC Ensembl
Innerchr2:233300816..233398215hg19UCSC Ensembl
Innerchr2:233009060..233106459hg18UCSC Ensembl
Innerchr2:233126321..233223720hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3897400
hg1997400
hg1897400
hg1797400
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704281
Samples
Known GenesALPI, CHRND, ECEL1, PRSS56
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527789
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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