A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524893



Internal ID22377761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:48068913..48069050hg38UCSC Ensembl
chr4:48070930..48071067hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14313927, nssv14313930, nssv14313929, nssv14313931, nssv14313928, nssv14313932, nssv14313926
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00514
Known GenesTXK
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3524893
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer