A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4041



Internal ID15202025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:143728224..143762398hg38UCSC Ensembl
Outerchr3:143447066..143481240hg19UCSC Ensembl
Outerchr3:144929756..144963930hg18UCSC Ensembl
Outerchr3:144929764..144963938hg17UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg385253
hg195253
hg185253
hg175253
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7876
SamplesNA12156
Known GenesSLC9A9
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)nsv4041
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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