A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6338399



Internal ID20995952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73448653..73449176hg38UCSC Ensembl
chr2:73675780..73676303hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg38524
hg19524
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18089717
Samples
Known GenesALMS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6338399
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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