A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973009



Internal ID18608224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7179320..7188182hg38UCSC Ensembl
Innerchr12:7331916..7340778hg19UCSC Ensembl
Innerchr12:7223183..7232045hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg388863
hg198863
hg188863
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1911594, nssv1911598, nssv1911599, nssv1911596, nssv1911593, nssv1911590, nssv1911591, nssv1911592, nssv1911595, nssv1911597
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)nsv973009
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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