A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14466243



Internal ID22227095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:21309595..21317871hg38UCSC Ensembl
chr17:21212907..21221183hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg388277
hg198277
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204054
Supporting Variants
SamplesHG00733
Known GenesMAP2K3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14466243
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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