A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16916192



Internal ID11509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:75593863..75690055hg38UCSC Ensembl
chr2:75820989..75917181hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3896193
hg1996193
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5447073
Supporting Variants
Samples
Known GenesGCFC2, MRPL19
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16916192
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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