A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3176960



Internal ID22334167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:36403009..36403178hg38UCSC Ensembl
chr7:36442618..36442787hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg38170
hg19170
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14385147
SamplesNA19240
Known GenesANLN
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)nsv3176960
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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