A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4142



Internal ID15548822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:183310960..183343000hg38UCSC Ensembl
Outerchr3:183028748..183060788hg19UCSC Ensembl
Outerchr3:184511442..184543482hg18UCSC Ensembl
Outerchr3:184511450..184543490hg17UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg387225
hg197225
hg187225
hg177225
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4699
SamplesNA19129
Known GenesMCF2L2
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)nsv4142
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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