A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14338199



Internal ID22321338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:128478452..128478669hg38UCSC Ensembl
chr7:128118506..128118723hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38218
hg19218
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213705
Supporting Variants
SamplesNA19240
Known GenesMETTL2B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14338199
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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