A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961382



Internal ID18249942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:11812162..11815121hg38UCSC Ensembl
Innerchr2:11952288..11955247hg19UCSC Ensembl
Innerchr2:11869739..11872698hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg382960
hg192960
hg182960
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2163607, nssv2163603, nssv2163610, nssv2163608, nssv2163605, nssv2163611, nssv2163612, nssv2163609, nssv2163606, nssv2163604
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesLPIN1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961382
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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