A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008620



Internal ID18751151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:175461672..175791616hg38UCSC Ensembl
Innerchr1:175430808..175760752hg19UCSC Ensembl
Innerchr1:173697431..174027375hg18UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38329945
hg19329945
hg18329945
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv466n100
Supporting Variantsnssv3704821
Samples
Known GenesTNR
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008620
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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