A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3526659



Internal ID22396041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:55368228..55368552hg38UCSC Ensembl
chr4:56234395..56234719hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6612n152
Supporting Variantsnssv14312934, nssv14312931, nssv14312930, nssv14312933, nssv14312932
SamplesHG00512, NA19239, HG00731, NA19240, HG00733
Known GenesSRD5A3, SRD5A3-AS1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3526659
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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