A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15181274



Internal ID21320070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:24076495..24076812hg38UCSC Ensembl
chr1:24402985..24403302hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3946080
Supporting Variants
SamplesHG002
Known GenesMYOM3
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15181274
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer