A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2406263



Internal ID17835904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:35069175..35071948hg38UCSC Ensembl
Innerchr6:35036952..35039725hg19UCSC Ensembl
Innerchr6:35144930..35147703hg18UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg382774
hg192774
hg182774
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965716
Supporting Variants
SamplesHGDP00998
Known GenesANKS1A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2406263
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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