A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515831



Internal ID15442888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:35706177..35723759hg38UCSC Ensembl
Innerchr5:35706279..35723861hg19UCSC Ensembl
Innerchr5:35742036..35759618hg18UCSC Ensembl
Innerchr5:35742036..35759618hg17UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3817583
hg1917583
hg1817583
hg1717583
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv654413, nssv664929
Samples
Known GenesSPEF2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515831
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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