A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1175940



Internal ID15528742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:48957415..49105021hg38UCSC Ensembl
Innerchr13:49531551..49679157hg19UCSC Ensembl
Innerchr13:48429552..48577158hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38147607
hg19147607
hg18147607
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv561593
Supporting Variants
SamplesHGDP00682
Known GenesFNDC3A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1175940
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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