A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2082107



Internal ID17441760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18369215..18568609hg38UCSC Ensembl
Innerchr17:18272529..18471923hg19UCSC Ensembl
Innerchr17:18213254..18412648hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38199395
hg19199395
hg18199395
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962275
Supporting Variants
SamplesHGDP00665
Known GenesCCDC144B, EVPLL, FAM106A, FLJ35934, KRT16P1, LGALS9C, LOC339240, USP32P2
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)nssv2082107
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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