A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv603004



Internal ID16043727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:44224183..44314579hg38UCSC Ensembl
Innerchr6:44191920..44282316hg19UCSC Ensembl
Innerchr6:44299898..44390294hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3890397
hg1990397
hg1890397
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10641n54
Supporting Variantsnssv1153701
Samples1780862300_A
Known GenesAARS2, HSP90AB1, MIR4647, NFKBIE, SLC29A1, SLC35B2, TCTE1, TMEM151B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv603004
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