A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27384



Internal ID15838237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41255118..41256706hg38UCSC Ensembl
Outerchr17:41254659..41259018hg38UCSC Ensembl
Innerchr17:39411370..39412958hg19UCSC Ensembl
Outerchr17:39410911..39415270hg19UCSC Ensembl
Innerchr17:36664896..36666484hg18UCSC Ensembl
Outerchr17:36664437..36668796hg18UCSC Ensembl
Innerchr17:36664896..36666484hg17UCSC Ensembl
Outerchr17:36664437..36668796hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg384360
hg194360
hg184360
hg174360
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9551
Supporting Variants
SamplesNA18860
Known GenesKRTAP9-9
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)nssv27384
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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