A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2476010



Internal ID17742892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:122680313..122682224hg38UCSC Ensembl
Innerchr7:122320367..122322278hg19UCSC Ensembl
Innerchr7:122107603..122109514hg18UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg381912
hg191912
hg181912
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981573
Supporting Variants
SamplesHGDP00456
Known GenesCADPS2
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)nssv2476010
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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