A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713277



Internal ID136943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44159000..44164200hg38UCSC Ensembl
chr17:42236368..42241568hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg385201
hg195201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5518756
Supporting Variants
Samples
Known GenesC17orf53
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713277
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000158


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