A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2077342



Internal ID17785516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:14704648..14706127hg38UCSC Ensembl
Innerchr17:14607965..14609444hg19UCSC Ensembl
Innerchr17:14548690..14550169hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg381480
hg191480
hg181480
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978365
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)nssv2077342
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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