A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2074530



Internal ID17804483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:6749762..6750637hg38UCSC Ensembl
Innerchr17:6653081..6653956hg19UCSC Ensembl
Innerchr17:6593805..6594680hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38876
hg19876
hg18876
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960047
Supporting Variants
SamplesHGDP00778
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)nssv2074530
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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