A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945904



Internal ID18592754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:42489616..42492457hg38UCSC Ensembl
Innerchr1:42955287..42958128hg19UCSC Ensembl
Innerchr1:42727874..42730715hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg382842
hg192842
hg182842
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1761295, nssv1761296, nssv1761289, nssv1761290, nssv1761291, nssv1761292, nssv1761298, nssv1761297, nssv1761293, nssv1761294
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)nsv945904
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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