A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17000140



Internal ID67676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:100516779..100610779hg38UCSC Ensembl
chr7:100114402..100208402hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3894001
hg1994001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6142756
Supporting Variants
Samples
Known GenesAGFG2, FBXO24, LRCH4, PCOLCE, PCOLCE-AS1, SAP25
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17000140
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002934


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