A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115970



Internal ID18902584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:110386242..110386327hg38UCSC Ensembl
Outerchr12:110824047..110824132hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978532
SamplesKWS2
Known GenesANAPC7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115970
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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