A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979849



Internal ID18268364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:77315400..77318937hg38UCSC Ensembl
Innerchr3:77364551..77368088hg19UCSC Ensembl
Innerchr3:77447241..77450778hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg383538
hg193538
hg183538
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2286497, nssv2286491, nssv2286489, nssv2286498, nssv2286492, nssv2286490, nssv2286496, nssv2286495, nssv2286494, nssv2286493
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesROBO2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979849
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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