A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002201



Internal ID19091418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:186204046..186234925hg38UCSC Ensembl
Innerchr1:186173178..186204057hg19UCSC Ensembl
Innerchr1:184439801..184470680hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3830880
hg1930880
hg1830880
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv481n100
Supporting Variantsnssv3484610
Samples
Known GenesMIR548F1, RNU6-72P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002201
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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