A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997730



Internal ID18810580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109683506..109703496hg38UCSC Ensembl
Innerchr1:110226128..110246118hg19UCSC Ensembl
Innerchr1:110027651..110047641hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3819991
hg1919991
hg1819991
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv269n100
Supporting Variantsnssv3483882, nssv3502302, nssv3500493, nssv3498411, nssv3487674, nssv3485971, nssv3487714
Samples
Known GenesGSTM1, GSTM2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997730
Frequency
Sample Size29084
Observed Gain3
Observed Loss4
Observed Complex0
Frequencyn/a


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