A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961016



Internal ID18249577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:8729022..8729921hg38UCSC Ensembl
Innerchr2:8869152..8870051hg19UCSC Ensembl
Innerchr2:8786603..8787502hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38900
hg19900
hg18900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2165956, nssv2165955, nssv2165953, nssv2165950, nssv2165954, nssv2165949, nssv2165957, nssv2165948, nssv2165952, nssv2165951
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKIDINS220
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961016
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer