A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516320



Internal ID15443613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:39697118..39709027hg38UCSC Ensembl
Innerchr4:39698738..39710647hg19UCSC Ensembl
Innerchr4:39375133..39387042hg18UCSC Ensembl
Innerchr4:39521304..39533213hg17UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3811910
hg1911910
hg1811910
hg1711910
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv658999, nssv686984, nssv654869, nssv680677, nssv655670, nssv676361, nssv691167, nssv689713, nssv679009, nssv683980, nssv685445, nssv656761, nssv672773, nssv667550, nssv686144, nssv689383
Samples
Known GenesUBE2K
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516320
Frequency
Sample Size2026
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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