A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18000358



Internal ID20567398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:39691401..39693000hg38UCSC Ensembl
chr12:40085203..40086802hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg381600
hg191600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6470269
Supporting Variants
Samples
Known GenesC12orf40
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18000358
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00153


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