A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5874232



Internal ID22649183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41049507..41053930hg38UCSC Ensembl
chr1:41515179..41519602hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg384424
hg194424
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17386433
Samples
Known GenesSCMH1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5874232
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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