A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26574



Internal ID15844287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:155173661..155183451hg38UCSC Ensembl
Outerchr1:155172153..155184461hg38UCSC Ensembl
Innerchr1:155146137..155155927hg19UCSC Ensembl
Outerchr1:155144629..155156937hg19UCSC Ensembl
Innerchr1:153412761..153422551hg18UCSC Ensembl
Outerchr1:153411253..153423561hg18UCSC Ensembl
Innerchr1:151959210..151969000hg17UCSC Ensembl
Outerchr1:151957702..151970010hg17UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg3812309
hg1912309
hg1812309
hg1712309
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8447
Supporting Variants
SamplesNA19221
Known GenesKRTCAP2, TRIM46
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)nssv26574
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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