A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14415020



Internal ID22150508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:71687083..71687083hg38UCSC Ensembl
chr10:73446840..73446840hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg381019
hg191019
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3555931
Supporting Variants
SamplesHG00514
Known GenesCDH23
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14415020
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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