A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704125



Internal ID15094091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:234661964..235549244hg38UCSC Ensembl
Innerchr2:235570608..236457888hg19UCSC Ensembl
Innerchr2:235235347..236122627hg18UCSC Ensembl
Innerchr2:235352608..236239888hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38887281
hg19887281
hg18887281
hg17887281
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527654
Supporting Variants
Samples
Known GenesAGAP1, SH3BP4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704125
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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