A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14412153



Internal ID22314630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3090761..3092683hg38UCSC Ensembl
chr6:3090995..3092917hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg381923
hg191923
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3284545
Supporting Variants
SamplesNA19240
Known GenesRIPK1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14412153
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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