A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6496460



Internal ID20869662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1174469..1342221hg38UCSC Ensembl
chr17:1077763..1245515hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38167753
hg19167753
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18181882
Samples
Known GenesABR, BHLHA9, TUSC5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6496460
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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