A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15196335



Internal ID21335131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:71750650..71750709hg38UCSC Ensembl
chr5:71046477..71046536hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3943702
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15196335
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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