A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008727



Internal ID18751258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:175461672..175783589hg38UCSC Ensembl
Innerchr1:175430808..175752725hg19UCSC Ensembl
Innerchr1:173697431..174019348hg18UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38321918
hg19321918
hg18321918
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv466n100
Supporting Variantsnssv3502173
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)nsv1008727
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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