A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv602996



Internal ID16390405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:43098175..43146964hg38UCSC Ensembl
Innerchr6:43065913..43114702hg19UCSC Ensembl
Innerchr6:43173891..43222680hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3848790
hg1948790
hg1848790
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153697
SamplesHGDP00696
Known GenesPTK7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv602996
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