A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17003517



Internal ID69970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:127159723..127169635hg38UCSC Ensembl
chr7:126799777..126809689hg19UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg389913
hg199913
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5477333
Supporting Variants
Samples
Known GenesGRM8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17003517
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000625


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