A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17401840



Internal ID22459710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112584570..112584637hg38UCSC Ensembl
chr2:113342147..113342214hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5893846
Supporting Variants
Samples
Known GenesCHCHD5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17401840
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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