A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27638



Internal ID15842906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247965660..247965987hg38UCSC Ensembl
Outerchr1:247964569..247966768hg38UCSC Ensembl
Innerchr1:248128962..248129289hg19UCSC Ensembl
Outerchr1:248127871..248130070hg19UCSC Ensembl
Innerchr1:246195585..246195912hg18UCSC Ensembl
Outerchr1:246194494..246196693hg18UCSC Ensembl
Innerchr1:244455003..244455330hg17UCSC Ensembl
Outerchr1:244453912..244456111hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg382200
hg192200
hg182200
hg172200
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9080
Supporting Variants
SamplesNA19173
Known GenesOR2AK2, OR2L13
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)nssv27638
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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