A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002678



Internal ID18745210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109684336..109707602hg38UCSC Ensembl
Innerchr1:110226958..110250224hg19UCSC Ensembl
Innerchr1:110028481..110051747hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3823267
hg1923267
hg1823267
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv273n100
Supporting Variantsnssv3498120, nssv3491636
Samples
Known GenesGSTM1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002678
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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