A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9977



Internal ID15847889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:135930585..135954711hg38UCSC Ensembl
OuterchrX:135012744..135036870hg19UCSC Ensembl
OuterchrX:134840410..134864536hg18UCSC Ensembl
OuterchrX:134738264..134762390hg17UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg3824127
hg1924127
hg1824127
hg1724127
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27547, nssv25288, nssv26062, nssv26453, nssv27659, nssv23665, nssv26996, nssv28264
SamplesNA07029, NA18504, NA12155, NA18563, NA18860, NA18572, NA18853, NA19144
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)nsv9977
Frequency
Sample Size31
Observed Gain7
Observed Loss1
Observed Complex0
Frequencyn/a


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