A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1113512



Internal ID18932007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:98855769..98855821hg38UCSC Ensembl
Outerchr12:99249547..99249599hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3968813
SamplesKWS2
Known GenesANKS1B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1113512
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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