A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2397971



Internal ID17397509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:26522136..26528230hg38UCSC Ensembl
Innerchr6:26522364..26528458hg19UCSC Ensembl
Innerchr6:26630343..26636437hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg386095
hg196095
hg186095
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965690
Supporting Variants
SamplesHGDP00521
Known GenesHCG11
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)nssv2397971
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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