A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv951292



Internal ID16953479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:2792271..2927870hg38UCSC Ensembl
Outerchr11:2813501..2949100hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38135600
hg19135600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998134
SamplesBILGI_BIOE
Known GenesCDKN1C, KCNQ1, KCNQ1DN, SLC22A18, SLC22A18AS
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv951292
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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