A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15179847



Internal ID21318643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:99886216..99886269hg38UCSC Ensembl
chr3:99605060..99605113hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3943900
Supporting Variants
SamplesHG002
Known GenesCMSS1, FILIP1L, MIR548G
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15179847
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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