A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4254



Internal ID15538981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:17048050..17059943hg38UCSC Ensembl
Outerchr17:16951364..16963257hg19UCSC Ensembl
Outerchr17:16892089..16903982hg18UCSC Ensembl
Outerchr17:16892089..16903982hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3817531
hg1917531
hg1817531
hg1717531
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1995
Supporting Variants
SamplesNA12878
Known GenesMPRIP
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)nssv4254
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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