A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003578



Internal ID18746109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1068249..1282706hg38UCSC Ensembl
Innerchr1:1003629..1218086hg19UCSC Ensembl
Innerchr1:993492..1207949hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38214458
hg19214458
hg18214458
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3466373
Samples
Known GenesB3GALT6, C1orf159, FAM132A, LOC254099, MIR200A, MIR200B, MIR429, RNF223, SCNN1D, SDF4, TNFRSF18, TNFRSF4, TTLL10, UBE2J2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003578
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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