A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5914758



Internal ID22689975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:121245900..121246634hg38UCSC Ensembl
chr7:120885954..120886688hg19UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg38735
hg19735
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17444450
Samples
Known GenesCPED1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5914758
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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