A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005402



Internal ID19094619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:127923850..127965502hg38UCSC Ensembl
Innerchr3:127642693..127684345hg19UCSC Ensembl
Innerchr3:129125383..129167035hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3841653
hg1941653
hg1841653
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4854n100
Supporting Variantsnssv3603510
Samples
Known GenesKBTBD12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005402
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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