A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2478275



Internal ID17871221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:129096549..129099047hg38UCSC Ensembl
Innerchr7:128736603..128739101hg19UCSC Ensembl
Innerchr7:128523839..128526337hg18UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg382499
hg192499
hg182499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970578
Supporting Variants
SamplesHGDP01284
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)nssv2478275
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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