A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3190788



Internal ID22341599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:38452201..38454003hg38UCSC Ensembl
chr7:38491801..38493603hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg381803
hg191803
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14332696, nssv14332688, nssv14332690, nssv14332695, nssv14332693, nssv14332694, nssv14332691, nssv14332692, nssv14332689
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesAMPH
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3190788
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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