A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16994766



Internal ID63940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:40496528..40498816hg38UCSC Ensembl
chr7:40536127..40538415hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg382289
hg192289
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5487536
Supporting Variants
Samples
Known GenesC7orf10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16994766
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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