A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975446



Internal ID18610654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9695310..9699622hg38UCSC Ensembl
Innerchr12:9847906..9852218hg19UCSC Ensembl
Innerchr12:9739173..9743485hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg384313
hg194313
hg184313
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1915645, nssv1915637, nssv1915638, nssv1915644, nssv1915641, nssv1915643, nssv1915640, nssv1915639, nssv1915642, nssv1915636
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCLEC2D
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975446
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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