A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963210



Internal ID18598451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:9583405..9585499hg38UCSC Ensembl
Innerchr2:9723534..9725628hg19UCSC Ensembl
Innerchr2:9640985..9643079hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg382095
hg192095
hg182095
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2163070, nssv2163068, nssv2163067, nssv2163064, nssv2163065, nssv2163066, nssv2163069, nssv2163072, nssv2163063, nssv2163071
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesYWHAQ
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963210
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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