A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4001415



Internal ID19190723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:5812594..5812656hg38UCSC Ensembl
Outerchr12:5921760..5921822hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153495
Supporting Variants
SamplesKWB1
Known GenesANO2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4001415
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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