A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3702118



Internal ID18653713
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 StatusS
Merged Variantsnsv1000564
Supporting Variants
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)nssv3702118
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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