A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4024



Internal ID15202006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:136146065..136158844hg38UCSC Ensembl
Outerchr3:135864907..135877686hg19UCSC Ensembl
Outerchr3:137347597..137360376hg18UCSC Ensembl
Outerchr3:137347605..137360384hg17UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg387032
hg197032
hg187032
hg177032
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv331
SamplesNA19240
Known GenesMSL2, PPP2R3A
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)nsv4024
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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