A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15193971



Internal ID21332864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53290716..53290716hg38UCSC Ensembl
chr12:53684500..53684500hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3953404
Supporting Variants
SamplesHG002
Known GenesESPL1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15193971
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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