A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008513



Internal ID18751044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109650144..109700319hg38UCSC Ensembl
Innerchr1:110192766..110242941hg19UCSC Ensembl
Innerchr1:109994289..110044464hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3850176
hg1950176
hg1850176
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv254n100
Supporting Variantsnssv3483776, nssv3494924, nssv3485175, nssv3491545, nssv3497241, nssv3493313, nssv3492503, nssv3492206, nssv3488079, nssv3701157, nssv3494542, nssv3487262, nssv3502303, nssv3484657, nssv3488859, nssv3494900, nssv3499491, nssv3486808, nssv3500975
Samples
Known GenesGSTM1, GSTM2, GSTM4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008513
Frequency
Sample Size29084
Observed Gain16
Observed Loss3
Observed Complex0
Frequencyn/a


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