A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17396325



Internal ID22454195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233470792..233470842hg38UCSC Ensembl
chr2:234379438..234379488hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5894501
Supporting Variants
Samples
Known GenesDGKD
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17396325
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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