A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4249



Internal ID15192290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:8393330..8417088hg38UCSC Ensembl
Outerchr17:8296648..8320406hg19UCSC Ensembl
Outerchr17:8237373..8261131hg18UCSC Ensembl
Outerchr17:8237373..8261131hg17UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg384826
hg194826
hg184826
hg174826
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1968
Supporting Variants
SamplesNA12878
Known GenesRNF222
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)nssv4249
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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