A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945872



Internal ID18592722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:32666257..32669496hg38UCSC Ensembl
Innerchr1:33131858..33135097hg19UCSC Ensembl
Innerchr1:32904445..32907684hg18UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg383240
hg193240
hg183240
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1758393, nssv1758394, nssv1758397, nssv1758398, nssv1758399, nssv1758392, nssv1758395, nssv1758391, nssv1758396, nssv1758400
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRBBP4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945872
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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