A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001909



Internal ID18744440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:180163553..180218787hg38UCSC Ensembl
Innerchr1:180132688..180187922hg19UCSC Ensembl
Innerchr1:178399311..178454545hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3855235
hg1955235
hg1855235
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv476n100
Supporting Variantsnssv3502243, nssv3494659, nssv3497026, nssv3497502, nssv3484750
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)nsv1001909
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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