A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17492



Internal ID15827215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:81916901..81949090hg38UCSC Ensembl
Outerchr9:81916089..81949384hg38UCSC Ensembl
Innerchr9:84531816..84564005hg19UCSC Ensembl
Outerchr9:84531004..84564299hg19UCSC Ensembl
Innerchr9:83721636..83753825hg18UCSC Ensembl
Outerchr9:83720824..83754119hg18UCSC Ensembl
Innerchr9:81761370..81793559hg17UCSC Ensembl
Outerchr9:81760558..81793853hg17UCSC Ensembl
Cytoband9q21.32
Allele length
AssemblyAllele length
hg3833296
hg1933296
hg1833296
hg1733296
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8536
Supporting Variants
SamplesNA07029
Known GenesSPATA31D3, SPATA31D4, SPATA31D5P
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)nssv17492
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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