A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211377



Internal ID22358952
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14337380
SamplesNA19238
Known GenesSLC13A1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211377
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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