A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965680



Internal ID18600910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:7986486..7988267hg38UCSC Ensembl
Innerchr6:7986719..7988500hg19UCSC Ensembl
Innerchr6:7931718..7933499hg18UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg381782
hg191782
hg181782
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2394987, nssv2394988, nssv2394985, nssv2394984, nssv2394993, nssv2394992, nssv2394986, nssv2394989, nssv2394991, nssv2394990
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesBLOC1S5-TXNDC5, PIP5K1P1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv965680
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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