A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3476252



Internal ID18720246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:65392405..65506395hg38UCSC Ensembl
Innerchr1:65858088..65972078hg19UCSC Ensembl
Innerchr1:65630676..65744666hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38113991
hg19113991
hg18113991
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1008025
Supporting Variants
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)nssv3476252
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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