A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17003516



Internal ID69969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:127135659..127141360hg38UCSC Ensembl
chr7:126775713..126781414hg19UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg385702
hg195702
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5476330
Supporting Variants
Samples
Known GenesGRM8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17003516
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00203


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