A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2477766



Internal ID17837354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:128396895..128401453hg38UCSC Ensembl
Innerchr7:128036949..128041507hg19UCSC Ensembl
Innerchr7:127824185..127828743hg18UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg384559
hg194559
hg184559
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981576
Supporting Variants
SamplesHGDP00998
Known GenesIMPDH1
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)nssv2477766
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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