A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28501



Internal ID15827571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:231820927..231849828hg38UCSC Ensembl
Outerchr2:231819724..231852629hg38UCSC Ensembl
Innerchr2:232685637..232714538hg19UCSC Ensembl
Outerchr2:232684434..232717339hg19UCSC Ensembl
Innerchr2:232393881..232422782hg18UCSC Ensembl
Outerchr2:232392678..232425583hg18UCSC Ensembl
Innerchr2:232511142..232540043hg17UCSC Ensembl
Outerchr2:232509939..232542844hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3832906
hg1932906
hg1832906
hg1732906
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10223
Supporting Variants
SamplesNA07029
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)nssv28501
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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