A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14394955



Internal ID22301744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:35391782..35391915hg38UCSC Ensembl
chr1:35857383..35857516hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190210
Supporting Variants
SamplesNA19240
Known GenesZMYM4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluS mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14394955
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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