A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963844



Internal ID18599084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130417312..130418514hg38UCSC Ensembl
Innerchr2:131174885..131176087hg19UCSC Ensembl
Innerchr2:130891355..130892557hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg381203
hg191203
hg181203
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2671041, nssv2671039, nssv2671035, nssv2671040, nssv2671038, nssv2671043, nssv2671036, nssv2671037, nssv2671042, nssv2671034
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFAR2P2
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963844
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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