A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14248522



Internal ID21304941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:783283..915307hg38UCSC Ensembl
Outerchr1:777165..939522hg38UCSC Ensembl
Innerchr1:718663..850687hg19UCSC Ensembl
Outerchr1:712545..874902hg19UCSC Ensembl
Innerchr1:708526..840550hg18UCSC Ensembl
Outerchr1:702408..864765hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38162358
hg19162358
hg18162358
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170084
Supporting Variants
SamplesNGO_17
Known GenesFAM41C, FAM87B, LINC00115, LINC01128, LOC100130417, LOC100288069, SAMD11
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14248522
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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