A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6474599



Internal ID21132152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:85099233..85122430hg38UCSC Ensembl
chr12:85493011..85516208hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3823198
hg1923198
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18004237
Samples
Known GenesLRRIQ1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6474599
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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