A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973110



Internal ID18608325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:101772715..101773719hg38UCSC Ensembl
Innerchr12:102166493..102167497hg19UCSC Ensembl
Innerchr12:100690624..100691628hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg381005
hg191005
hg181005
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1941989, nssv1941990, nssv1941987, nssv1941983, nssv1941981, nssv1941984, nssv1941988, nssv1941986, nssv1941985, nssv1941982
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGNPTAB
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973110
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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