A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2080802



Internal ID17850280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18010791..18011790hg38UCSC Ensembl
Innerchr17:17914105..17915104hg19UCSC Ensembl
Innerchr17:17854830..17855829hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381000
hg191000
hg181000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960428
Supporting Variants
SamplesHGDP01029
Known GenesLRRC48
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)nssv2080802
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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