A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5873956



Internal ID22648906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54146179..54149508hg38UCSC Ensembl
chr1:54611852..54615181hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg383330
hg193330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17388124
Samples
Known GenesCDCP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5873956
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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