A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28029



Internal ID15481641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1691572..1694345hg38UCSC Ensembl
Outerchr1:1689659..1695108hg38UCSC Ensembl
Innerchr1:1623011..1625784hg19UCSC Ensembl
Outerchr1:1621098..1626547hg19UCSC Ensembl
Innerchr1:1612871..1615644hg18UCSC Ensembl
Outerchr1:1610958..1616407hg18UCSC Ensembl
Innerchr1:1655173..1657946hg17UCSC Ensembl
Outerchr1:1653260..1658709hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg385450
hg195450
hg185450
hg175450
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10161
Supporting Variants
SamplesNA10839
Known GenesCDK11B, SLC35E2B
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)nssv28029
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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