A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17000497



Internal ID67910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:100120779..100129000hg38UCSC Ensembl
chr7:99718402..99726623hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg388222
hg198222
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141702
Supporting Variants
Samples
Known GenesCNPY4, MBLAC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17000497
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003232


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