A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4240



Internal ID15538967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:297615..317170hg38UCSC Ensembl
Outerchr17:147406..166961hg19UCSC Ensembl
Outerchr17:147406..166961hg18UCSC Ensembl
Outerchr17:147406..166961hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg387617
hg197617
hg187617
hg177617
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1938
Supporting Variants
SamplesNA12878
Known GenesRPH3AL
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)nssv4240
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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