A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17699748



Internal ID123414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:30392600..30400874hg38UCSC Ensembl
chr15:30684803..30693077hg19UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg388275
hg198275
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144381
Supporting Variants
Samples
Known GenesCHRFAM7A, LOC101059918
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17699748
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.012016


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