A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5923455



Internal ID22698682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:43156668..43156731hg38UCSC Ensembl
chr7:43196267..43196330hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17434435
Samples
Known GenesHECW1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5923455
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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