A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15192587



Internal ID21331467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17768315..17768315hg38UCSC Ensembl
chr1:18094810..18094810hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3931101
Supporting Variants
SamplesHG002
Known GenesACTL8
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15192587
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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