A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998133



Internal ID16944399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:2661771..2674970hg38UCSC Ensembl
Outerchr11:2683001..2696200hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3813200
hg1913200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951291
Supporting Variants
SamplesBILGI_BIOE
Known GenesKCNQ1, KCNQ1OT1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998133
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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