A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007134



Internal ID19096352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:123904869..123955583hg38UCSC Ensembl
Innerchr2:124662446..124713160hg19UCSC Ensembl
Innerchr2:124378916..124429630hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3850715
hg1950715
hg1850715
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4063n100
Supporting Variantsnssv3580712
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007134
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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