A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17720184



Internal ID143850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1033800..1268000hg38UCSC Ensembl
chr19:1033799..1267999hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38234201
hg19234201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6145724
Supporting Variants
Samples
Known GenesABCA7, ATP5D, C19orf26, CIRBP-AS1, CNN2, GPX4, HMHA1, MIDN, POLR2E, SBNO2, STK11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17720184
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.180851


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