A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6320639



Internal ID20853739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53595266..53599486hg38UCSC Ensembl
chr1:54060939..54065159hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg384221
hg194221
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18061517
Samples
Known GenesGLIS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6320639
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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