A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17002514



Internal ID69288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:126019312..126910121hg38UCSC Ensembl
chr7:125659366..126550175hg19UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg38890810
hg19890810
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5481755
Supporting Variants
Samples
Known GenesGRM8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17002514
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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