A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2081993



Internal ID17785090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:17185133..17185838hg38UCSC Ensembl
Innerchr17:17088447..17089152hg19UCSC Ensembl
Innerchr17:17029172..17029877hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38706
hg19706
hg18706
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962272
Supporting Variants
SamplesHGDP00665
Known GenesMPRIP
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)nssv2081993
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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