A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597888



Internal ID16038611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:42628506..42630020hg38UCSC Ensembl
Innerchr5:42628608..42630122hg19UCSC Ensembl
Innerchr5:42664365..42665879hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg381515
hg191515
hg181515
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9732n54
Supporting Variantsnssv1029144, nssv1029146, nssv1029143, nssv1029145
Samples
Known GenesGHR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597888
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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