A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2073688



Internal ID17506640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4704126..4705158hg38UCSC Ensembl
Innerchr17:4607421..4608453hg19UCSC Ensembl
Innerchr17:4554170..4555202hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg381033
hg191033
hg181033
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978353
Supporting Variants
SamplesHGDP01029
Known GenesLOC101559451, PELP1
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)nssv2073688
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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