A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2474917



Internal ID17880971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:105581565..105583038hg38UCSC Ensembl
Innerchr7:105222012..105223485hg19UCSC Ensembl
Innerchr7:105009248..105010721hg18UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg381474
hg191474
hg181474
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981568
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)nssv2474917
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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