A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000781



Internal ID18743312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:180164721..180202226hg38UCSC Ensembl
Innerchr1:180133856..180171361hg19UCSC Ensembl
Innerchr1:178400479..178437984hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3837506
hg1937506
hg1837506
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv475n100
Supporting Variantsnssv3483565, nssv3492332, nssv3498029
Samples
Known GenesFLJ23867, QSOX1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000781
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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