A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470684



Internal ID15387615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41363749..41368926hg38UCSC Ensembl
Innerchr17:39520001..39525178hg19UCSC Ensembl
Innerchr17:36773527..36778704hg18UCSC Ensembl
Innerchr17:39893166..39898343hg16UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg385178
hg195178
hg185178
hg165178
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438274
Supporting Variants
SamplesNA19209
Known GenesKRT33B
MethodSNP array
AnalysisNull genotypes - for each genotype assay and population sample we defined the null genotype pattern of that assay as the binary vector (length 90) of null genotype calls across the 90 individuals.
PlatformNot reported
Comments
ReferenceMcCarroll_et_al_2006
Pubmed ID16468122
Accession Number(s)nssv470684
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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