A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044949



Internal ID18787480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:52497005..52715291hg38UCSC Ensembl
Innerchr13:53071140..53289426hg19UCSC Ensembl
Innerchr13:51969141..52187427hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38218287
hg19218287
hg18218287
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523469
Samples
Known GenesHNRNPA1L2, LECT1, SUGT1, TPTE2P3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044949
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