A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005659



Internal ID18748190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25232069..25320483hg38UCSC Ensembl
Innerchr1:25558560..25646974hg19UCSC Ensembl
Innerchr1:25431147..25519561hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3888415
hg1988415
hg1888415
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv134n100
Supporting Variantsnssv3700859
Samples
Known GenesC1orf63, RHD, SYF2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005659
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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