A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv604644



Internal ID16392053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:128073744..128164994hg38UCSC Ensembl
Innerchr6:128394889..128486139hg19UCSC Ensembl
Innerchr6:128436582..128527832hg18UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg3891251
hg1991251
hg1891251
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1072616
Samples
Known GenesPTPRK
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv604644
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