A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17388124



Internal ID22445994
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 StatusS
Merged Variantsnsv5873956
Supporting Variants
Samples
Known GenesCDCP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17388124
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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