A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004546



Internal ID18747077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25273802..25336807hg38UCSC Ensembl
Innerchr1:25600293..25663298hg19UCSC Ensembl
Innerchr1:25472880..25535885hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3863006
hg1963006
hg1863006
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv142n100
Supporting Variantsnssv3471842, nssv3473993, nssv3479767, nssv3474664, nssv3463830, nssv3481661, nssv3473445, nssv3477846, nssv3473667, nssv3481327, nssv3477070, nssv3471316, nssv3465048
Samples
Known GenesRHD
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004546
Frequency
Sample Size29084
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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