A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv689678



Internal ID15079644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:128378653..128486108hg38UCSC Ensembl
Innerchr3:128097496..128204951hg19UCSC Ensembl
Innerchr3:129580186..129687641hg18UCSC Ensembl
Innerchr3:129580194..129687649hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38107456
hg19107456
hg18107456
hg17107456
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516926
Supporting Variants
Samples
Known GenesDNAJB8, DNAJB8-AS1, EEFSEC, GATA2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv689678
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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