A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997522



Internal ID17290474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:135016063..135019162hg38UCSC Ensembl
Outerchr6:135337201..135340300hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg383100
hg193100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950511
Supporting Variants
SamplesBILGI_BIOE
Known GenesHBS1L
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997522
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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