A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6369252



Internal ID21026805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:120915201..120916200hg38UCSC Ensembl
chr3:120634048..120635047hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18093613
Samples
Known GenesSTXBP5L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6369252
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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