A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002768



Internal ID18745300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:180163553..180226259hg38UCSC Ensembl
Innerchr1:180132688..180195394hg19UCSC Ensembl
Innerchr1:178399311..178462017hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3862707
hg1962707
hg1862707
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv476n100
Supporting Variantsnssv3484818
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)nsv1002768
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer