A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209257



Internal ID22357364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:39402727..39404190hg38UCSC Ensembl
chr7:39442326..39443789hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg381464
hg191464
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14332745, nssv14332747, nssv14332748, nssv14332752, nssv14332746, nssv14332751, nssv14332753, nssv14332749, nssv14332750
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesPOU6F2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209257
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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