A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963389



Internal ID18598630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:185689237..185690921hg38UCSC Ensembl
Innerchr3:185407025..185408709hg19UCSC Ensembl
Innerchr3:186889719..186891403hg18UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg381685
hg191685
hg181685
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2305870, nssv2305873, nssv2305872, nssv2305877, nssv2305875, nssv2305876, nssv2305868, nssv2305871, nssv2305874, nssv2305869
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesIGF2BP2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963389
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