A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599380



Internal ID16386789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:112603917..112608752hg38UCSC Ensembl
Innerchr5:111939614..111944449hg19UCSC Ensembl
Innerchr5:111967513..111972348hg18UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg384836
hg194836
hg184836
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10006n54
Supporting Variantsnssv1040331, nssv1040347, nssv1040351, nssv1040329, nssv1040320, nssv1040335, nssv1040333, nssv1040327, nssv1040337, nssv1040336, nssv1040325, nssv1040352, nssv1040328, nssv1040340, nssv1040322, nssv1040346, nssv1040323, nssv1040342, nssv1040326, nssv1040319, nssv1040316, nssv1040317, nssv1040341, nssv1040318, nssv1040334, nssv1040324, nssv1040348, nssv1040338, nssv1040332, nssv1040330, nssv1040345, nssv1040343, nssv1040339, nssv1040349, nssv1040344, nssv1040350, nssv1040321
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599380
Frequency
Sample Size17421
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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