A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14426416



Internal ID22166768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:34035496..34035496hg38UCSC Ensembl
chr6:34003273..34003273hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3540259
Supporting Variants
SamplesHG00514
Known GenesGRM4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14426416
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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