A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv716140



Internal ID15663410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:65396115..65484373hg38UCSC Ensembl
Innerchr1:65861798..65950056hg19UCSC Ensembl
Innerchr1:65634386..65722644hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3888259
hg1988259
hg1888259
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546438
Supporting Variants
Samples
Known GenesDNAJC6, LEPR, LEPROT
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv716140
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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