A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15179578



Internal ID21318374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50301101..50301198hg38UCSC Ensembl
chr20:48917638..48917735hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3931338
Supporting Variants
SamplesHG002
Known GenesLOC284751
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15179578
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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