A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946055



Internal ID18246219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:89010812..89014409hg38UCSC Ensembl
Innerchr1:89476495..89480092hg19UCSC Ensembl
Innerchr1:89249083..89252680hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg383598
hg193598
hg183598
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1776497, nssv1776498, nssv1776494, nssv1776495, nssv1776492, nssv1776491, nssv1776490, nssv1776499, nssv1776493, nssv1776496
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesGBP3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946055
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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