A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27891



Internal ID15833205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrY:18622128..18698269hg38UCSC Ensembl
OuterchrY:18621902..18698495hg38UCSC Ensembl
InnerchrY:20784014..20860155hg19UCSC Ensembl
OuterchrY:20783788..20860381hg19UCSC Ensembl
InnerchrY:19243402..19319543hg18UCSC Ensembl
OuterchrY:19243176..19319769hg18UCSC Ensembl
InnerchrY:19172139..19248280hg17UCSC Ensembl
OuterchrY:19171913..19248506hg17UCSC Ensembl
CytobandYq11.222
Allele length
AssemblyAllele length
hg3876594
hg1976594
hg1876594
hg1776594
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10023
Supporting Variants
SamplesNA18504
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)nssv27891
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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