A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2477091



Internal ID17876265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:128572761..128616246hg38UCSC Ensembl
Innerchr7:128212815..128256300hg19UCSC Ensembl
Innerchr7:128000051..128043536hg18UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg3843486
hg1943486
hg1843486
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv966885
Supporting Variants
SamplesHGDP01307
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2477091
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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