A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17392693



Internal ID22450563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112543345..112673811hg38UCSC Ensembl
chr2:113300922..113431388hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38130467
hg19130467
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5899050
Supporting Variants
Samples
Known GenesCHCHD5, FLJ42351, POLR1B, SLC20A1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17392693
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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