A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2086



Internal ID15546649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:51803620..51838805hg38UCSC Ensembl
Outerchr17:49880980..49916165hg19UCSC Ensembl
Outerchr17:47235979..47271164hg18UCSC Ensembl
Outerchr17:47235979..47271164hg17UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg384558
hg194558
hg184558
hg174558
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4274
SamplesNA12878
Known GenesCA10
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)nsv2086
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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