A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14413604



Internal ID22148921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44765243..44765418hg38UCSC Ensembl
chr1:45230915..45231090hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3179145
Supporting Variants
SamplesHG00514
Known GenesKIF2C
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14413604
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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