A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574994



Internal ID16015717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:40563547..40668384hg38UCSC Ensembl
Innerchr17:38719799..38824636hg19UCSC Ensembl
Innerchr17:35973325..36078162hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38104838
hg19104838
hg18104838
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv870535
Samples
Known GenesCCR7, KRT222, SMARCE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574994
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