A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17610345



Internal ID21802392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48084292..48084659hg38UCSC Ensembl
chr13:48658428..48658795hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38368
hg19368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6032634
Supporting Variants
Samples
Known GenesMED4
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17610345
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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