A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142815



Internal ID18936569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:112297116..112297191hg38UCSC Ensembl
Outerchr12:112734920..112734995hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962286, nssv3979591
SamplesKWS1, KWS2
Known GenesHECTD4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142815
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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