A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005512



Internal ID18748043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:180158481..180273524hg38UCSC Ensembl
Innerchr1:180127616..180242659hg19UCSC Ensembl
Innerchr1:178394239..178509282hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38115044
hg19115044
hg18115044
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv474n100
Supporting Variantsnssv3490728
Samples
Known GenesFLJ23867, LHX4, LOC100527964, QSOX1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005512
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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