A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2101168



Internal ID17805321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:49400252..49401261hg38UCSC Ensembl
Innerchr17:47477614..47478623hg19UCSC Ensembl
Innerchr17:44832613..44833622hg18UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg381010
hg191010
hg181010
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962337
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)nssv2101168
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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