A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000470



Internal ID19089687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:187676760..187803748hg38UCSC Ensembl
Innerchr1:187645892..187772879hg19UCSC Ensembl
Innerchr1:185912515..186039502hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38126989
hg19126988
hg18126988
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv483n100
Supporting Variantsnssv3496085, nssv3494379
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000470
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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