A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2476865



Internal ID17787413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:131658319..131662544hg38UCSC Ensembl
Innerchr7:131343078..131347303hg19UCSC Ensembl
Innerchr7:130993618..130997843hg18UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg384226
hg194226
hg184226
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981581
Supporting Variants
SamplesHGDP00665
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)nssv2476865
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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