A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012423



Internal ID18754956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:3477686..4747449hg38UCSC Ensembl
Innerchr1:3394250..4807509hg19UCSC Ensembl
Innerchr1:3384110..4707369hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg381269764
hg191413260
hg181323260
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3696759
Samples
Known GenesAJAP1, ARHGEF16, C1orf174, CCDC27, CEP104, DFFB, LINC01134, LOC284661, LOC728716, LRRC47, MEGF6, MIR551A, SMIM1, TP73, TP73-AS1, TPRG1L, WRAP73
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012423
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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