A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17005248



Internal ID71128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:131907420..131912082hg38UCSC Ensembl
chr7:131592179..131596841hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg384663
hg194663
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5479854
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17005248
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002029


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