A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044999



Internal ID19134218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:41402645..41446439hg38UCSC Ensembl
Innerchr13:41976781..42020575hg19UCSC Ensembl
Innerchr13:40874781..40918575hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3843795
hg1943795
hg1843795
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3714964
Samples
Known GenesOR7E37P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044999
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