A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15182699



Internal ID21321495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30270029..30270254hg38UCSC Ensembl
chr13:30844166..30844391hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38226
hg19226
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3944541
Supporting Variants
SamplesHG002
Known GenesKATNAL1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15182699
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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