A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16656



Internal ID15482860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143536673..143544266hg38UCSC Ensembl
Outerchr7:143535633..143544620hg38UCSC Ensembl
Innerchr7:143233766..143241359hg19UCSC Ensembl
Outerchr7:143232726..143241713hg19UCSC Ensembl
Innerchr7:142943888..142951481hg18UCSC Ensembl
Outerchr7:142942848..142951835hg18UCSC Ensembl
Innerchr7:142750603..142758196hg17UCSC Ensembl
Outerchr7:142749563..142758550hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg388988
hg198988
hg188988
hg178988
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8227
Supporting Variants
SamplesNA10863
Known Genes
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv16656
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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