A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5923209



Internal ID22698435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:131270019..131270317hg38UCSC Ensembl
chr7:130954778..130955076hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg38299
hg19299
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17446538
Samples
Known GenesMKLN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5923209
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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