A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2415872



Internal ID17532711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:84711044..84719612hg38UCSC Ensembl
Innerchr6:85420762..85429330hg19UCSC Ensembl
Innerchr6:85477481..85486049hg18UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg388569
hg198569
hg188569
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970147
Supporting Variants
SamplesHGDP01307
Known Genes
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)nssv2415872
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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