A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519919



Internal ID15447212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:128993535..129022799hg38UCSC Ensembl
Innerchr3:128712378..128741642hg19UCSC Ensembl
Innerchr3:130195068..130224332hg18UCSC Ensembl
Innerchr3:130195076..130224340hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3829265
hg1929265
hg1829265
hg1729265
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv675604, nssv659505
Samples
Known GenesEFCC1, KIAA1257
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519919
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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