A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2085046



Internal ID17729282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:20707499..20786320hg38UCSC Ensembl
Innerchr17:20610812..20689633hg19UCSC Ensembl
Innerchr17:20551404..20630225hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3878822
hg1978822
hg1878822
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960076
Supporting Variants
SamplesHGDP00456
Known GenesLOC100287072
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)nssv2085046
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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