A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142140



Internal ID18917462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:46612307..46612396hg38UCSC Ensembl
Outerchr12:47006090..47006179hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983727, nssv3988040
SamplesKWS1, KWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142140
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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