A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946075



Internal ID18246239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:92228617..92231428hg38UCSC Ensembl
Innerchr1:92694174..92696985hg19UCSC Ensembl
Innerchr1:92466762..92469573hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg382812
hg192812
hg182812
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1778268, nssv1778266, nssv1778271, nssv1778265, nssv1778262, nssv1778269, nssv1778264, nssv1778263, nssv1778267, nssv1778270
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesC1orf146
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946075
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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