A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999451



Internal ID18812301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148240733..148359038hg38UCSC Ensembl
Innerchr1:147713004..147831171hg19UCSC Ensembl
Innerchr1:146179628..146297795hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38118306
hg19118168
hg18118168
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv336n100
Supporting Variantsnssv3502053, nssv3490353, nssv3490567, nssv3702119
Samples
Known GenesMIR5087, NBPF10, NBPF8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999451
Frequency
Sample Size29084
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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