A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002052



Internal ID19091269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109677956..109700319hg38UCSC Ensembl
Innerchr1:110220578..110242941hg19UCSC Ensembl
Innerchr1:110022101..110044464hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3822364
hg1922364
hg1822364
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv262n100
Supporting Variantsnssv3488883, nssv3701180, nssv3701179, nssv3701181, nssv3701178, nssv3498332, nssv3701177, nssv3491629
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)nsv1002052
Frequency
Sample Size11257
Observed Gain3
Observed Loss5
Observed Complex0
Frequencyn/a


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