A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6474810



Internal ID21132363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:80814071..80814576hg38UCSC Ensembl
chr12:81207850..81208355hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38506
hg19506
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18003683
Samples
Known GenesLIN7A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6474810
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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