A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7938



Internal ID15845850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:84035248..84038824hg38UCSC Ensembl
Outerchr6:84744967..84748543hg19UCSC Ensembl
Outerchr6:84801686..84805262hg18UCSC Ensembl
Outerchr6:84801686..84805262hg17UCSC Ensembl
Cytoband6q14.2
Allele length
AssemblyAllele length
hg383577
hg193577
hg183577
hg173577
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15059
SamplesNA19173
Known GenesMRAP2
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)nsv7938
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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