A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946598



Internal ID18246762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:203835626..203839551hg38UCSC Ensembl
Innerchr1:203804754..203808679hg19UCSC Ensembl
Innerchr1:202071377..202075302hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg383926
hg193926
hg183926
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1814591, nssv1814585, nssv1814589, nssv1814593, nssv1814590, nssv1814588, nssv1814594, nssv1814586, nssv1814592, nssv1814587
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesZC3H11A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946598
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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