A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17709945



Internal ID133611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1430051..1436243hg38UCSC Ensembl
chr17:1333345..1339537hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg386193
hg196193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5524643
Supporting Variants
Samples
Known GenesCRK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17709945
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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