A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965776



Internal ID18254320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:143490465..143495808hg38UCSC Ensembl
Innerchr6:143811602..143816945hg19UCSC Ensembl
Innerchr6:143853295..143858638hg18UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg385344
hg195344
hg185344
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2425106, nssv2425111, nssv2425112, nssv2425107, nssv2425108, nssv2425110, nssv2425114, nssv2425109, nssv2425115, nssv2425113
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFUCA2, PEX3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv965776
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