A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14243442



Internal ID21303733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11358643..11390452hg38UCSC Ensembl
Outerchr12:11351157..11390472hg38UCSC Ensembl
Innerchr12:11511577..11543386hg19UCSC Ensembl
Outerchr12:11504091..11543406hg19UCSC Ensembl
Innerchr12:11402844..11434653hg18UCSC Ensembl
Outerchr12:11395358..11434673hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3839316
hg1939316
hg1839316
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169580
Supporting Variants
SamplesMLY_8
Known GenesPRB1
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14243442
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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