A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17391513



Internal ID22449383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:15540082..15544800hg38UCSC Ensembl
chr2:15680206..15684924hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg384719
hg194719
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5879482
Supporting Variants
Samples
Known GenesNBAS
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17391513
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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