A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607514



Internal ID16394923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75714420..75741050hg38UCSC Ensembl
Innerchr7:75343738..75370368hg19UCSC Ensembl
Innerchr7:75181674..75208304hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3826631
hg1926631
hg1826631
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11454n54
Supporting Variantsnssv1087862, nssv1087863
Samples
Known GenesHIP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607514
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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