A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17598306



Internal ID21790350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:21656867..21656867hg38UCSC Ensembl
chr12:21809801..21809801hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38343
hg19343
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6094499
Supporting Variants
Samples
Known GenesLDHB
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17598306
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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