A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6462018



Internal ID21119571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24214601..24216000hg38UCSC Ensembl
chr12:24367535..24368934hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg381400
hg191400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17999772
Samples
Known GenesSOX5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6462018
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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