A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15199546



Internal ID21338342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:35487191..35487248hg38UCSC Ensembl
chr8:35344709..35344766hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3941127
Supporting Variants
SamplesHG002
Known GenesUNC5D
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15199546
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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