A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004507



Internal ID18747038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109681750..109703496hg38UCSC Ensembl
Innerchr1:110224372..110246118hg19UCSC Ensembl
Innerchr1:110025895..110047641hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3821747
hg1921747
hg1821747
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv269n100
Supporting Variantsnssv3501153, nssv3701715, nssv3497355, nssv3484235, nssv3494212, nssv3491197, nssv3490373, nssv3486684, nssv3701718, nssv3486071, nssv3486557, nssv3485541, nssv3498248, nssv3494437, nssv3488660, nssv3494330, nssv3493961, nssv3495366, nssv3499653, nssv3499646, nssv3501787, nssv3489061, nssv3495093, nssv3494063, nssv3490986, nssv3492937, nssv3701717, nssv3499523, nssv3490056, nssv3485046, nssv3701714, nssv3484887, nssv3484051, nssv3485811, nssv3491476, nssv3483265, nssv3482931, nssv3498947, nssv3701713, nssv3701719, nssv3490827, nssv3497767, nssv3497623, nssv3493366, nssv3701716, nssv3487470, nssv3486192, nssv3485403, nssv3487739, nssv3499863, nssv3496661, nssv3488545, nssv3488169, nssv3485556, nssv3502257, nssv3499720, nssv3489872, nssv3493636, nssv3491203, nssv3494750, nssv3483412, nssv3482928, nssv3501006
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)nsv1004507
Frequency
Sample Size29084
Observed Gain61
Observed Loss2
Observed Complex0
Frequencyn/a


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