A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002730



Internal ID18745262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:91836984..92099672hg38UCSC Ensembl
Innerchr1:92302541..92565229hg19UCSC Ensembl
Innerchr1:92075129..92337817hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38262689
hg19262689
hg18262689
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3465158
Samples
Known GenesBRDT, BTBD8, EPHX4, TGFBR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002730
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