A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17392253



Internal ID22450123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:235938741..235969493hg38UCSC Ensembl
chr2:236847385..236878137hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg3830753
hg1930753
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5889496
Supporting Variants
Samples
Known GenesAGAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17392253
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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