A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24301



Internal ID15497515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145960347..145963205hg38UCSC Ensembl
Outerchr1:145960053..145963570hg38UCSC Ensembl
Innerchr1:145471885..145474741hg19UCSC Ensembl
Outerchr1:145471520..145475035hg19UCSC Ensembl
Innerchr1:144183242..144186098hg18UCSC Ensembl
Outerchr1:144182877..144186392hg18UCSC Ensembl
Innerchr1:142960929..142963785hg17UCSC Ensembl
Outerchr1:142960564..142964079hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg383518
hg193516
hg183516
hg173516
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8103
Supporting Variants
SamplesNA19221
Known GenesANKRD34A, LOC100288142, NBPF10
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)nssv24301
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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