A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997747



Internal ID18810597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109684109..109703496hg38UCSC Ensembl
Innerchr1:110226731..110246118hg19UCSC Ensembl
Innerchr1:110028254..110047641hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3819388
hg1919388
hg1819388
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv269n100
Supporting Variantsnssv3482851, nssv3495538, nssv3500179, nssv3491741, nssv3501104, nssv3498126, nssv3483763, nssv3701913, nssv3488694, nssv3701915, nssv3492989, nssv3500853, nssv3497048, nssv3487417, nssv3494138, nssv3701914, nssv3701912, nssv3487284, nssv3701916, nssv3493911, nssv3489543, nssv3493948, nssv3485668
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)nsv997747
Frequency
Sample Size29084
Observed Gain4
Observed Loss19
Observed Complex0
Frequencyn/a


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