A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6415532



Internal ID21073085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:136253298..136253712hg38UCSC Ensembl
chr5:135588986..135589400hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38415
hg19415
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18214500
Samples
Known GenesTRPC7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6415532
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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