A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997478



Internal ID17290430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:73635178..73648177hg38UCSC Ensembl
Outerchr6:74344901..74357900hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3813000
hg1913000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950467
Supporting Variants
SamplesBILGI_BIOE
Known GenesSLC17A5
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997478
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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