A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003591



Internal ID18843680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11240..20141hg38UCSC Ensembl
Outerchr12:85599..94500hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg388902
hg198902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1150293
Supporting Variants
SamplesKWB1
Known GenesLOC100288778
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003591
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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