A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713958



Internal ID137624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:62830313..62831074hg38UCSC Ensembl
chr17:60907674..60908435hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38762
hg19762
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5527193
Supporting Variants
Samples
Known GenesMIR548W
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713958
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002498


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