A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17408948



Internal ID22466818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:121531382..121531979hg38UCSC Ensembl
chr2:122288958..122289555hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38598
hg19598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5893801
Supporting Variants
Samples
Known GenesCLASP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17408948
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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