A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6318496



Internal ID20851588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12727526..12728409hg38UCSC Ensembl
chr1:12787493..12788376hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38884
hg19884
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18051420
Samples
Known GenesAADACL3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6318496
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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