A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17003742



Internal ID70120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:139497673..139531753hg38UCSC Ensembl
chr7:139182419..139216499hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3834081
hg1934081
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6142485
Supporting Variants
Samples
Known GenesCLEC2L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17003742
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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