A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4171



Internal ID15548854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:192214236..192231416hg38UCSC Ensembl
Outerchr3:191932025..191949205hg19UCSC Ensembl
Outerchr3:193414719..193431899hg18UCSC Ensembl
Outerchr3:193414727..193431907hg17UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3812416
hg1912416
hg1812416
hg1712416
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv11072
SamplesNA15510
Known GenesFGF12
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)nsv4171
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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