A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14249593



Internal ID21312967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:47246596..47258743hg38UCSC Ensembl
Outerchr1:47243471..47262275hg38UCSC Ensembl
Innerchr1:47712268..47724415hg19UCSC Ensembl
Outerchr1:47709143..47727947hg19UCSC Ensembl
Innerchr1:47484855..47497002hg18UCSC Ensembl
Outerchr1:47481730..47500534hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3818805
hg1918805
hg1818805
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170187
Supporting Variants
SamplesSNI_6
Known GenesSTIL
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14249593
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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