A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976561



Internal ID18611767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7438023..7439650hg38UCSC Ensembl
Innerchr12:7590619..7592246hg19UCSC Ensembl
Innerchr12:7481886..7483513hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381628
hg191628
hg181628
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1911687, nssv1911694, nssv1911688, nssv1911690, nssv1911696, nssv1911695, nssv1911689, nssv1911693, nssv1911691, nssv1911692
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCD163L1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976561
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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