A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5873006



Internal ID22647948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:242551974..242552384hg38UCSC Ensembl
chr1:242715276..242715686hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38411
hg19411
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17354004
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5873006
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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