A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5870548



Internal ID22645484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:25432506..25438041hg38UCSC Ensembl
chr1:25758997..25764532hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg385536
hg195536
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17353737
Samples
Known GenesTMEM57
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5870548
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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