A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6474808



Internal ID21132361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57473732..57474954hg38UCSC Ensembl
chr12:57867515..57868737hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg381223
hg191223
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18001961
Samples
Known GenesARHGAP9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6474808
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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