A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6524145



Internal ID20897506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50194818..50198710hg38UCSC Ensembl
chr17:48272179..48276071hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg383893
hg193893
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18184419
Samples
Known GenesCOL1A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6524145
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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