A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973111



Internal ID18608326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:101873216..101875608hg38UCSC Ensembl
Innerchr12:102266994..102269386hg19UCSC Ensembl
Innerchr12:100791125..100793517hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg382393
hg192393
hg182393
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1943143, nssv1943139, nssv1943137, nssv1943138, nssv1943140, nssv1943135, nssv1943136, nssv1943142, nssv1943141, nssv1943134
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973111
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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