A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3528430



Internal ID22397818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:139424848..139425206hg38UCSC Ensembl
chr7:139109594..139109952hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38359
hg19359
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8775n152
Supporting Variantsnssv14337005, nssv14337004, nssv14337001, nssv14337003, nssv14337002, nssv14337000, nssv14336999
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513
Known GenesLOC100129148
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3528430
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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