A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606606



Internal ID16394015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:33092117..33147667hg38UCSC Ensembl
Innerchr7:33131729..33187279hg19UCSC Ensembl
Innerchr7:33098254..33153804hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3855551
hg1955551
hg1855551
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11272n54
Supporting Variantsnssv1082691, nssv1082693, nssv1155161, nssv1082692
Samples1780862408_A
Known GenesBBS9, RP9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606606
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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