A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14247342



Internal ID21311079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:2963097..2998952hg38UCSC Ensembl
Outerchr18:2953882..3000452hg38UCSC Ensembl
Innerchr18:2963095..2998950hg19UCSC Ensembl
Outerchr18:2953880..3000450hg19UCSC Ensembl
Innerchr18:2953095..2988950hg18UCSC Ensembl
Outerchr18:2943880..2990450hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3846571
hg1946571
hg1846571
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169391
Supporting Variants
SamplesPML_3
Known GenesLPIN2
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14247342
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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