A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17630385



Internal ID21822432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40770782..40781743hg38UCSC Ensembl
chr19:41276687..41287648hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3810962
hg1910962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6048170
Supporting Variants
Samples
Known GenesMIA, MIA-RAB4B, RAB4B, RAB4B-EGLN2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17630385
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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