A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4153



Internal ID15202148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:186625705..186665964hg38UCSC Ensembl
Outerchr3:186343494..186383753hg19UCSC Ensembl
Outerchr3:187826188..187866447hg18UCSC Ensembl
Outerchr3:187826196..187866455hg17UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg388262
hg198262
hg188262
hg178262
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4700, nssv2436, nssv353
SamplesNA18555, NA19240, NA19129
Known GenesFETUB, HRG
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)nsv4153
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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