A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2087852



Internal ID17805385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:27023926..27025243hg38UCSC Ensembl
Innerchr17:25350952..25352269hg19UCSC Ensembl
Innerchr17:22375079..22376396hg18UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg381318
hg191318
hg181318
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978400
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)nssv2087852
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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