A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16927265



Internal ID18892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:173360601..173361606hg38UCSC Ensembl
chr2:174225329..174226334hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381006
hg191006
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5446685
Supporting Variants
Samples
Known GenesCDCA7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16927265
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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