A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6094499



Internal ID22003732
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 StatusM
Merged Variants
Supporting Variantsnssv17598306
Samples
Known GenesLDHB
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6094499
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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