A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998132



Internal ID16944398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:2557571..2593870hg38UCSC Ensembl
Outerchr11:2578801..2615100hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3836300
hg1936300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951290
Supporting Variants
SamplesBILGI_BIOE
Known GenesKCNQ1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998132
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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