A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6144465



Internal ID343670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46099028..46099351hg38UCSC Ensembl
chr17:44176394..44176717hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713408
Samples
Known GenesKANSL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6144465
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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