A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16976472



Internal ID51703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:162116290..162116865hg38UCSC Ensembl
chr5:161543296..161543871hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38576
hg19576
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5455798
Supporting Variants
Samples
Known GenesGABRG2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16976472
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.005776


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