A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204580



Internal ID22353408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:134005697..134006177hg38UCSC Ensembl
chr6:134326835..134327315hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38481
hg19481
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14331776, nssv14331775
SamplesHG00731, HG00733
Known GenesSLC2A12
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204580
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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