A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6349967



Internal ID21007520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39930391..40012720hg38UCSC Ensembl
chr2:40157531..40239860hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3882330
hg1982330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18089758
Samples
Known GenesSLC8A1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6349967
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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