A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2467737



Internal ID17852225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:87521465..87524142hg38UCSC Ensembl
Innerchr7:87150781..87153458hg19UCSC Ensembl
Innerchr7:86988717..86991394hg18UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg382678
hg192678
hg182678
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981545
Supporting Variants
SamplesHGDP01029
Known GenesABCB1
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)nssv2467737
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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