A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6336909



Internal ID20994462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39843248..39964675hg38UCSC Ensembl
chr2:40070388..40191815hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38121428
hg19121428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3841n223
Supporting Variantsnssv18086464
Samples
Known GenesSLC8A1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6336909
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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