A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148299



Internal ID18849212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:110061709..110062039hg38UCSC Ensembl
Outerchr9:112823989..112824319hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000335
SamplesKWB1
Known GenesAKAP2, PALM2-AKAP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148299
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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