A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124665



Internal ID18907692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:125089054..125095954hg38UCSC Ensembl
Outerchr12:125573600..125580500hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg386901
hg196901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3976720
SamplesKWS2
Known GenesAACS
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124665
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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