A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4301



Internal ID15548997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:36290929..36320230hg38UCSC Ensembl
Outerchr4:36292551..36321852hg19UCSC Ensembl
Outerchr4:35968946..35998247hg18UCSC Ensembl
Outerchr4:36115117..36144418hg17UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3810133
hg1910133
hg1810133
hg1710133
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7074
SamplesNA12156
Known GenesDTHD1
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)nsv4301
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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