A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979140



Internal ID18614343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:160272533..160273236hg38UCSC Ensembl
Innerchr2:161129044..161129747hg19UCSC Ensembl
Innerchr2:160837290..160837993hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38704
hg19704
hg18704
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2210241, nssv2210238, nssv2210237, nssv2210243, nssv2210239, nssv2210240, nssv2210236, nssv2210244, nssv2210242, nssv2210235
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRBMS1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979140
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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