A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15192490



Internal ID21331371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95476532..95476532hg38UCSC Ensembl
chr12:95870308..95870308hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3926494
Supporting Variants
SamplesHG002
Known GenesMETAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15192490
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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