A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5885115



Internal ID22660099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:246942616..246947571hg38UCSC Ensembl
chr1:247105918..247110873hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg384956
hg194956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17350326
Samples
Known GenesZNF670-ZNF695, ZNF695
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5885115
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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