A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17000580



Internal ID67964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:103319909..103321809hg38UCSC Ensembl
chr7:102960356..102962256hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg381901
hg191901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5485176
Supporting Variants
Samples
Known GenesDNAJC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17000580
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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