A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14244341



Internal ID21303985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:117611519..117613722hg38UCSC Ensembl
Outerchr12:117611412..117613773hg38UCSC Ensembl
Innerchr12:118049324..118051527hg19UCSC Ensembl
Outerchr12:118049217..118051578hg19UCSC Ensembl
Innerchr12:116533707..116535910hg18UCSC Ensembl
Outerchr12:116533600..116535961hg18UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg382362
hg192362
hg182362
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169454
Supporting Variants
SamplesNGO_1
Known GenesKSR2
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14244341
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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