A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17699746



Internal ID123412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:30378100..30422850hg38UCSC Ensembl
chr15:30670303..30715053hg19UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg3844751
hg1944751
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144297
Supporting Variants
Samples
Known GenesCHRFAM7A, LOC101059918
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17699746
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003021


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