A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2070710



Internal ID17866772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:1857558..1863814hg38UCSC Ensembl
Innerchr17:1760852..1767108hg19UCSC Ensembl
Innerchr17:1707602..1713858hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg386257
hg196257
hg186257
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960040
Supporting Variants
SamplesHGDP01284
Known GenesRPA1
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)nssv2070710
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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