A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945873



Internal ID18592723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:32679705..32680508hg38UCSC Ensembl
Innerchr1:33145306..33146109hg19UCSC Ensembl
Innerchr1:32917893..32918696hg18UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg38804
hg19804
hg18804
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1758495, nssv1758492, nssv1758491, nssv1758496, nssv1758488, nssv1758494, nssv1758493, nssv1758497, nssv1758490, nssv1758489
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRBBP4, SYNC
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945873
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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