A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16908598



Internal ID6521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:100052425..100055819hg38UCSC Ensembl
chr1:100517981..100521375hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg383395
hg193395
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5431994
Supporting Variants
Samples
Known GenesHIAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16908598
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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