A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15192551



Internal ID21331439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112297116..112297116hg38UCSC Ensembl
chr12:112734920..112734920hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3939713
Supporting Variants
SamplesHG002
Known GenesHECTD4
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15192551
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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