A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979169



Internal ID18614372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:203671089..203672918hg38UCSC Ensembl
Innerchr2:204535812..204537641hg19UCSC Ensembl
Innerchr2:204244057..204245886hg18UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg381830
hg191830
hg181830
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2219279, nssv2219277, nssv2219274, nssv2219272, nssv2219273, nssv2219276, nssv2219275, nssv2219278, nssv2219280, nssv2219271
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)nsv979169
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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