A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997717



Internal ID18810567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:129006263..129081989hg38UCSC Ensembl
Innerchr3:128725106..128800832hg19UCSC Ensembl
Innerchr3:130207796..130283522hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3875727
hg1975727
hg1875727
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3736420
Samples
Known GenesEFCC1, GP9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997717
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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