A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5916946



Internal ID22692165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:130471864..130473406hg38UCSC Ensembl
chr7:130111705..130113247hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg381543
hg191543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17438692
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5916946
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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