A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15750092



Internal ID21387664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38717760..38720030hg38UCSC Ensembl
chr2:38944902..38947172hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg382271
hg192271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4433783
Supporting Variants
SamplesMDQ045
Known GenesGALM
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nssv15750092
Frequency
Sample Size15
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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