A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4253



Internal ID15538980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:12481122..12514583hg38UCSC Ensembl
Outerchr17:12384439..12417900hg19UCSC Ensembl
Outerchr17:12325164..12358625hg18UCSC Ensembl
Outerchr17:12325164..12358625hg17UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg386265
hg196265
hg186265
hg176265
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1985
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv4253
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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