A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3954553



Internal ID21374622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:214596760..214597094hg38UCSC Ensembl
chr1:214770103..214770437hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15178990
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3954553
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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