A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6319694



Internal ID20852789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:231374126..231375368hg38UCSC Ensembl
chr1:231509872..231511114hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg381243
hg191243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18059400
Samples
Known GenesEGLN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6319694
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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