A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3179145



Internal ID22335391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44765243..44765418hg38UCSC Ensembl
chr1:45230915..45231090hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14413604
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)nsv3179145
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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