A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17396897



Internal ID22454767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74152213..74152266hg38UCSC Ensembl
chr2:74379340..74379393hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5869798
Supporting Variants
Samples
Known GenesBOLA3-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17396897
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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