A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14337380



Internal ID22256159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:123149761..123248497hg38UCSC Ensembl
chr7:122789815..122888551hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg3898737
hg1998737
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211377
Supporting Variants
SamplesNA19238
Known GenesSLC13A1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14337380
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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