A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008025



Internal ID18750556
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 StatusM
Merged Variantsdgv174n100
Supporting Variantsnssv3476252
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)nsv1008025
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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