A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518085



Internal ID15098692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:127576838..127647285hg38UCSC Ensembl
Innerchr2:128334413..128404860hg19UCSC Ensembl
Innerchr2:128050883..128121330hg18UCSC Ensembl
Innerchr2:128050643..128121090hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3870448
hg1970448
hg1870448
hg1770448
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695499
Samples
Known GenesGPR17, LIMS2, MYO7B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518085
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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