A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12772



Internal ID15492059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25259429..25404872hg38UCSC Ensembl
Outerchr1:25258853..25412403hg38UCSC Ensembl
Innerchr1:25585920..25731363hg19UCSC Ensembl
Outerchr1:25585344..25738894hg19UCSC Ensembl
Innerchr1:25458507..25603950hg18UCSC Ensembl
Outerchr1:25457931..25611481hg18UCSC Ensembl
Innerchr1:25331238..25476679hg17UCSC Ensembl
Outerchr1:25330662..25484210hg17UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38153551
hg19153551
hg18153551
hg17153549
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9768
Supporting Variants
SamplesNA18942
Known GenesRHCE, RHD, TMEM50A
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)nssv12772
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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