A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17724791



Internal ID148457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:56186490..56191990hg38UCSC Ensembl
chr17:54263851..54269351hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg385501
hg195501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5526995
Supporting Variants
Samples
Known GenesANKFN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17724791
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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