A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6316977



Internal ID20850059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:78569713..78621755hg38UCSC Ensembl
chr1:79035398..79087440hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3852043
hg1952043
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204467
Samples
Known GenesIFI44L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6316977
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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