A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000564



Internal ID19089781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:147867836..148359038hg38UCSC Ensembl
Innerchr1:147339968..147831171hg19UCSC Ensembl
Innerchr1:145806592..146297795hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38491203
hg19491204
hg18491204
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3702118
Samples
Known GenesGJA8, GPR89B, GPR89C, MIR5087, NBPF10, NBPF11, NBPF24, NBPF8, PDZK1P1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000564
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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