A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979175



Internal ID18614378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:218952865..218954973hg38UCSC Ensembl
Innerchr2:219817587..219819695hg19UCSC Ensembl
Innerchr2:219525831..219527939hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg382109
hg192109
hg182109
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2221692, nssv2221691, nssv2221687, nssv2221695, nssv2221696, nssv2221688, nssv2221694, nssv2221689, nssv2221690, nssv2221693
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979175
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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