A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6462046



Internal ID21119599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56544206..56549900hg38UCSC Ensembl
chr12:56937990..56943684hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg385695
hg195695
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18001857
Samples
Known GenesRBMS2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6462046
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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