A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1049698



Internal ID15556198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:18099363..18131233hg38UCSC Ensembl
Innerchr6:18099594..18131464hg19UCSC Ensembl
Innerchr6:18207573..18239443hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3831871
hg1931871
hg1831871
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv601049
Supporting Variants
Samples
Known GenesNHLRC1, TPMT
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1049698
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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