A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14456376



Internal ID22250635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78679347..78679418hg38UCSC Ensembl
chr17:76675429..76675500hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199044
Supporting Variants
SamplesHG00733
Known GenesCYTH1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14456376
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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