A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5874553



Internal ID22649506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:15418278..15418592hg38UCSC Ensembl
chr1:15744774..15745088hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17351746
Samples
Known GenesEFHD2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5874553
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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