A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008249



Internal ID19097468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:208921184..208950507hg38UCSC Ensembl
Innerchr1:209094529..209123852hg19UCSC Ensembl
Innerchr1:207161152..207190475hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3829324
hg1929324
hg1829324
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3495778
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)nsv1008249
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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