A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143702



Internal ID18907809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:67648420..67649920hg38UCSC Ensembl
Outerchr12:68042200..68043700hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg381501
hg191501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3994393
SamplesKWS1
Known GenesDYRK2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143702
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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