A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521461



Internal ID15102068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232347151..232450598hg38UCSC Ensembl
Innerchr2:233211861..233315308hg19UCSC Ensembl
Innerchr2:232920105..233023552hg18UCSC Ensembl
Innerchr2:233037366..233140813hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38103448
hg19103448
hg18103448
hg17103448
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698071
Samples
Known GenesALPP, ALPPL2, ECEL1P2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521461
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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