A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14247700



Internal ID21302893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:830721..874393hg38UCSC Ensembl
Outerchr1:829889..877652hg38UCSC Ensembl
Innerchr1:766101..809773hg19UCSC Ensembl
Outerchr1:765269..813032hg19UCSC Ensembl
Innerchr1:755964..799636hg18UCSC Ensembl
Outerchr1:755132..802895hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3847764
hg1947764
hg1847764
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170084
Supporting Variants
SamplesMLY_2
Known GenesFAM41C, LINC01128
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14247700
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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