A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5908222



Internal ID22683432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:130042123..130045816hg38UCSC Ensembl
chr7:129681963..129685656hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg383694
hg193694
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17433019
Samples
Known GenesZC3HC1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5908222
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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