A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14247010



Internal ID21310852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:185322323..185344368hg38UCSC Ensembl
Outerchr1:185320236..185347300hg38UCSC Ensembl
Innerchr1:185291455..185313500hg19UCSC Ensembl
Outerchr1:185289368..185316432hg19UCSC Ensembl
Innerchr1:183558078..183580123hg18UCSC Ensembl
Outerchr1:183555991..183583055hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3827065
hg1927065
hg1827065
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169491
Supporting Variants
SamplesPML_1
Known GenesLOC100288079
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14247010
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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