A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3919



Internal ID15548576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:100013511..100047790hg38UCSC Ensembl
Outerchr3:99732355..99766634hg19UCSC Ensembl
Outerchr3:101215045..101249324hg18UCSC Ensembl
Outerchr3:101215045..101249324hg17UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg385427
hg195427
hg185427
hg175427
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3185
SamplesNA12878
Known GenesCMSS1, FILIP1L
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)nsv3919
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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