A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17407979



Internal ID22465849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201198787..201212195hg38UCSC Ensembl
chr2:202063510..202076918hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3813409
hg1913409
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5894236
Supporting Variants
Samples
Known GenesCASP10
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17407979
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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