A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979133



Internal ID18267650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:148881290..148881925hg38UCSC Ensembl
Innerchr2:149638859..149639494hg19UCSC Ensembl
Innerchr2:149355329..149355964hg18UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg38636
hg19636
hg18636
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2208546, nssv2208543, nssv2208544, nssv2208542, nssv2208545, nssv2208550, nssv2208549, nssv2208548, nssv2208541, nssv2208547
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKIF5C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979133
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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