A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14247796



Internal ID21303992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:64377044..64385862hg38UCSC Ensembl
Outerchr1:64371598..64388922hg38UCSC Ensembl
Innerchr1:64842727..64851545hg19UCSC Ensembl
Outerchr1:64837281..64854605hg19UCSC Ensembl
Innerchr1:64615315..64624133hg18UCSC Ensembl
Outerchr1:64609869..64627193hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3817325
hg1917325
hg1817325
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169472
Supporting Variants
SamplesNGO_1
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14247796
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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