A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979891



Internal ID18268406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:155827371..155828310hg38UCSC Ensembl
Innerchr3:155545160..155546099hg19UCSC Ensembl
Innerchr3:157027854..157028793hg18UCSC Ensembl
Cytoband3q25.31
Allele length
AssemblyAllele length
hg38940
hg19940
hg18940
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2300831, nssv2300832, nssv2300830, nssv2300825, nssv2300829, nssv2300823, nssv2300827, nssv2300826, nssv2300828, nssv2300824
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSLC33A1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979891
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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