A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4985



Internal ID15549749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:125423338..125447795hg38UCSC Ensembl
Outerchr5:124759031..124783488hg19UCSC Ensembl
Outerchr5:124786930..124811387hg18UCSC Ensembl
Outerchr5:124786930..124811387hg17UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3812464
hg1912464
hg1812464
hg1712464
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv493, nssv9675
SamplesNA18507, NA19240
Known Genes
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)nsv4985
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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