A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518631



Internal ID295012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40902081..41114453hg38UCSC Ensembl
chr17:39058333..39270705hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38212373
hg19212373
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713130
Samples
Known GenesKRT23, KRT39, KRT40, KRTAP1-1, KRTAP1-3, KRTAP1-4, KRTAP1-5, KRTAP2-1, KRTAP2-2, KRTAP2-3, KRTAP2-4, KRTAP3-1, KRTAP3-2, KRTAP3-3, KRTAP4-7, KRTAP4-8, KRTAP4-9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518631
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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