A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998225



Internal ID19157762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:127923850..127956099hg38UCSC Ensembl
Innerchr3:127642693..127674942hg19UCSC Ensembl
Innerchr3:129125383..129157632hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3832250
hg1932250
hg1832250
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4854n100
Supporting Variantsnssv3603509
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)nsv998225
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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