A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2073162



Internal ID17818702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:3396407..3398386hg38UCSC Ensembl
Innerchr17:3299701..3301680hg19UCSC Ensembl
Innerchr17:3246451..3248430hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg381980
hg191980
hg181980
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962248
Supporting Variants
SamplesHGDP00927
Known GenesOR1E1
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)nssv2073162
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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