A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023193



Internal ID18765726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:93602376..95828660hg38UCSC Ensembl
Innerchr7:93231688..95457972hg19UCSC Ensembl
Innerchr7:93069624..95295908hg18UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg382226285
hg192226285
hg182226285
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3655250
Samples
Known GenesASB4, BET1, CASD1, COL1A2, DYNC1I1, GNG11, GNGT1, MIR4652, PDK4, PEG10, PON1, PON2, PON3, PPP1R9A, SGCE, TFPI2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1023193
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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