A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595588



Internal ID16382997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:139313206..139318541hg38UCSC Ensembl
Innerchr4:140234360..140239695hg19UCSC Ensembl
Innerchr4:140453810..140459145hg18UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg385336
hg195336
hg185336
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9293n54
Supporting Variantsnssv1008223, nssv1008222
Samples
Known GenesNAA15
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595588
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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