A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998968



Internal ID18811818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:65397619..65489032hg38UCSC Ensembl
Innerchr1:65863302..65954715hg19UCSC Ensembl
Innerchr1:65635890..65727303hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3891414
hg1991414
hg1891414
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv174n100
Supporting Variantsnssv3479660
Samples
Known GenesDNAJC6, LEPR, LEPROT
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998968
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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