A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217744



Internal ID22363306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:12699926..12700428hg38UCSC Ensembl
chr17:12603243..12603745hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38503
hg19503
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14388813, nssv14378127
SamplesHG00513, HG00514
Known GenesLOC101928418, MYOCD
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217744
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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