A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2394621



Internal ID17844891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:17582106..17583840hg38UCSC Ensembl
Innerchr6:17582337..17584071hg19UCSC Ensembl
Innerchr6:17690316..17692050hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg381735
hg191735
hg181735
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981107
Supporting Variants
SamplesHGDP01029
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)nssv2394621
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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