A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2083664



Internal ID17388248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:19024288..19025116hg38UCSC Ensembl
Innerchr17:18927601..18928429hg19UCSC Ensembl
Innerchr17:18868326..18869154hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38829
hg19829
hg18829
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960071
Supporting Variants
SamplesHGDP00456
Known GenesGRAP
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)nssv2083664
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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