A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515940



Internal ID15442997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4277827..4345104hg38UCSC Ensembl
Innerchr17:4181122..4248399hg19UCSC Ensembl
Innerchr17:4127871..4195148hg18UCSC Ensembl
Innerchr17:4127871..4195148hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3867278
hg1967278
hg1867278
hg1767278
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv665389, nssv684421, nssv685730, nssv696385, nssv658147, nssv667379, nssv672176, nssv678272
Samples
Known GenesUBE2G1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515940
Frequency
Sample Size2026
Observed Gain5
Observed Loss3
Observed Complex0
Frequencyn/a


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