A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17393042



Internal ID22450912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238537335..238546235hg38UCSC Ensembl
chr2:239445976..239454876hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg388901
hg198901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5891636
Supporting Variants
Samples
Known GenesLINC01107
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17393042
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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