A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17710998



Internal ID134664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4714513..4714763hg38UCSC Ensembl
chr17:4617808..4618058hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38251
hg19251
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144461
Supporting Variants
Samples
Known GenesARRB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17710998
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000469


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