A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15193371



Internal ID21332259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123945973..123945973hg38UCSC Ensembl
chr12:124430520..124430520hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3927914
Supporting Variants
SamplesHG002
Known GenesCCDC92
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15193371
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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