A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961569



Internal ID18250129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:230723578..230726703hg38UCSC Ensembl
Innerchr2:231588293..231591418hg19UCSC Ensembl
Innerchr2:231296537..231299662hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg383126
hg193126
hg183126
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2223599, nssv2223603, nssv2223598, nssv2223595, nssv2223597, nssv2223602, nssv2223600, nssv2223601, nssv2223594, nssv2223596
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesCAB39
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961569
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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