A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4010120



Internal ID22071751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:16786555..16819487hg38UCSC Ensembl
Outerchr17:16759737..16832218hg38UCSC Ensembl
Innerchr17:16689869..16722801hg19UCSC Ensembl
Outerchr17:16663051..16735532hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3872482
hg1972482
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1155386
Supporting Variants
Samples
Known GenesCCDC144A, FAM106CP, KRT16P2, USP32P1
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4010120
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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