A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14455227



Internal ID22215998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7852397..7852449hg38UCSC Ensembl
chr17:7755715..7755767hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193798
Supporting Variants
SamplesHG00733
Known GenesKDM6B
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14455227
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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