A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14332753



Internal ID22289852
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 Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209257
Supporting Variants
SamplesNA19240
Known GenesPOU6F2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14332753
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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