A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975530



Internal ID18264052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:112312629..112313129hg38UCSC Ensembl
Innerchr12:112750433..112750933hg19UCSC Ensembl
Innerchr12:111234816..111235316hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1944217, nssv1944223, nssv1944219, nssv1944216, nssv1944221, nssv1944218, nssv1944222, nssv1944220, nssv1944215, nssv1944214
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesHECTD4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975530
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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