A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6498230



Internal ID20871438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:12692923..12699798hg38UCSC Ensembl
chr17:12596240..12603115hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg386876
hg196876
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18034205
Samples
Known GenesLOC101928418, MYOCD
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6498230
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer