A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979075



Internal ID18614278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:100589949..100598341hg38UCSC Ensembl
Innerchr2:101206411..101214803hg19UCSC Ensembl
Innerchr2:100572843..100581235hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg388393
hg198393
hg188393
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2192432, nssv2192428, nssv2192429, nssv2192434, nssv2192433, nssv2192430, nssv2192436, nssv2192437, nssv2192435, nssv2192431
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)nsv979075
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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