A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4184



Internal ID15548868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:196803999..196827361hg38UCSC Ensembl
Outerchr3:196530870..196554232hg19UCSC Ensembl
Outerchr3:198015267..198038629hg18UCSC Ensembl
Outerchr3:198019180..198042542hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg386563
hg196563
hg186563
hg176563
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9877, nssv4713
SamplesNA18507, NA19129
Known GenesPAK2
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)nsv4184
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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