A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007192



Internal ID18749723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109683744..109703496hg38UCSC Ensembl
Innerchr1:110226366..110246118hg19UCSC Ensembl
Innerchr1:110027889..110047641hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3819753
hg1919753
hg1819753
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv269n100
Supporting Variantsnssv3489067, nssv3701892, nssv3495043, nssv3483509, nssv3485447, nssv3492300, nssv3492484, nssv3486900, nssv3498945
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)nsv1007192
Frequency
Sample Size29084
Observed Gain5
Observed Loss4
Observed Complex0
Frequencyn/a


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