A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6343138



Internal ID21000691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:142867497..142882991hg38UCSC Ensembl
chr2:143625066..143640560hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg3815495
hg1915495
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18077709
Samples
Known GenesKYNU
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6343138
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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