A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979017



Internal ID18267534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:70281341..70282539hg38UCSC Ensembl
Innerchr2:70508473..70509671hg19UCSC Ensembl
Innerchr2:70361977..70363175hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2176629, nssv2176626, nssv2176630, nssv2176627, nssv2176631, nssv2176624, nssv2176632, nssv2176628, nssv2176625, nssv2176633
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSNRPG
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979017
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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