A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975456



Internal ID18610664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:16990084..16992658hg38UCSC Ensembl
Innerchr12:17143018..17145592hg19UCSC Ensembl
Innerchr12:17034285..17036859hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg382575
hg192575
hg182575
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1917340, nssv1917343, nssv1917345, nssv1917336, nssv1917337, nssv1917342, nssv1917338, nssv1917344, nssv1917341, nssv1917339
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSKP1P2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975456
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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