A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17401910



Internal ID22459780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55407114..55409054hg38UCSC Ensembl
chr2:55634250..55636190hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg381941
hg191941
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5873338
Supporting Variants
Samples
Known GenesCCDC88A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17401910
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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