A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240031



Internal ID22374587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30158145..30158237hg38UCSC Ensembl
chr12:30311078..30311170hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14387694, nssv14443905, nssv14416059
SamplesNA19240, HG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion variant involving LTR satellite DNA
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240031
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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