A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5914081



Internal ID22689297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:123704494..123704549hg38UCSC Ensembl
chr7:123344548..123344603hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17441340
Samples
Known GenesWASL
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5914081
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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