A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000586



Internal ID18743117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25244766..25336807hg38UCSC Ensembl
Innerchr1:25571257..25663298hg19UCSC Ensembl
Innerchr1:25443844..25535885hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3892042
hg1992042
hg1892042
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv133n100
Supporting Variantsnssv3480651
Samples
Known GenesC1orf63, RHD
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000586
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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