A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999566



Internal ID16945832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:65525430..65662029hg38UCSC Ensembl
Outerchr11:65292901..65429500hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38136600
hg19136600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951018
Supporting Variants
SamplesBILGI_BIOE
Known GenesEHBP1L1, FAM89B, KCNK7, LTBP3, MAP3K11, MIR4489, MIR4690, PCNXL3, RELA, SCYL1, SIPA1, SSSCA1, SSSCA1-AS1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999566
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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