A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3502053



Internal ID18800334
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
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv999451
Supporting Variants
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)nssv3502053
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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