A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6504588



Internal ID20877850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:12660187..12678736hg38UCSC Ensembl
chr17:12563504..12582053hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3818550
hg1918550
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18183744
Samples
Known GenesLOC101928418, MYOCD
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6504588
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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