A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2436



Internal ID15194009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:186625705..186654954hg38UCSC Ensembl
Outerchr3:186343494..186372743hg19UCSC Ensembl
Outerchr3:187826188..187855437hg18UCSC Ensembl
Outerchr3:187826196..187855445hg17UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg388262
hg198262
hg188262
hg178262
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4153
Supporting Variants
SamplesNA18555
Known GenesFETUB
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)nssv2436
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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