A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516926



Internal ID15097533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:128378653..128503934hg38UCSC Ensembl
Innerchr3:128097496..128222777hg19UCSC Ensembl
Innerchr3:129580186..129705467hg18UCSC Ensembl
Innerchr3:129580194..129705475hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38125282
hg19125282
hg18125282
hg17125282
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv655009, nssv700340, nssv689678
Samples
Known GenesDNAJB8, DNAJB8-AS1, EEFSEC, GATA2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516926
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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