A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4035



Internal ID15202018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:139321680..139355530hg38UCSC Ensembl
Outerchr3:139040522..139074372hg19UCSC Ensembl
Outerchr3:140523212..140557062hg18UCSC Ensembl
Outerchr3:140523220..140557070hg17UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg387769
hg197769
hg187769
hg177769
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv333, nssv2418
SamplesNA18555, NA19240
Known GenesMRPS22
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)nsv4035
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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