A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4599



Internal ID15202638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:169062642..169095273hg38UCSC Ensembl
Outerchr4:169983793..170016424hg19UCSC Ensembl
Outerchr4:170220368..170252999hg18UCSC Ensembl
Outerchr4:170358523..170391154hg17UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg388358
hg198358
hg188358
hg178358
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv428
SamplesNA19240
Known GenesSH3RF1
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)nsv4599
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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