A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1113477



Internal ID18917185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:40349511..40349566hg38UCSC Ensembl
Outerchr12:40743313..40743368hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983253, nssv3990672
SamplesKWS1, KWS2
Known GenesLRRK2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1113477
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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