A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18000063



Internal ID20567103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27007901..27009600hg38UCSC Ensembl
chr12:27160834..27162533hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg381700
hg191700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6460748
Supporting Variants
Samples
Known GenesTM7SF3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18000063
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00033


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