A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3179221



Internal ID22335430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44785808..44786129hg38UCSC Ensembl
chr7:44825407..44825728hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14333510, nssv14333507, nssv14333509, nssv14333511, nssv14333508, nssv14333506
SamplesHG00512, NA19238, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3179221
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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