A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2095



Internal ID15546658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:54432654..54468046hg38UCSC Ensembl
Outerchr17:52510015..52545407hg19UCSC Ensembl
Outerchr17:49865014..49900406hg18UCSC Ensembl
Outerchr17:49865014..49900406hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg384349
hg194349
hg184349
hg174349
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4277
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)nsv2095
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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