A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14241751



Internal ID21301750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8858645..8861160hg38UCSC Ensembl
Outerchr12:8856464..8863598hg38UCSC Ensembl
Innerchr12:9011241..9013756hg19UCSC Ensembl
Outerchr12:9009060..9016194hg19UCSC Ensembl
Innerchr12:8902508..8905023hg18UCSC Ensembl
Outerchr12:8900327..8907461hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg387135
hg197135
hg187135
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169940
Supporting Variants
SamplesMLY_1
Known GenesA2ML1
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14241751
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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