A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975534



Internal ID18610742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:120909926..120922583hg38UCSC Ensembl
Innerchr12:121347729..121360386hg19UCSC Ensembl
Innerchr12:119832112..119844769hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3812658
hg1912658
hg1812658
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1946057, nssv1946056, nssv1946061, nssv1946058, nssv1946065, nssv1946062, nssv1946063, nssv1946059, nssv1946060, nssv1946064
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)nsv975534
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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