A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4066



Internal ID15548738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:151657340..151688138hg38UCSC Ensembl
Outerchr3:151375128..151405926hg19UCSC Ensembl
Outerchr3:152857818..152888616hg18UCSC Ensembl
Outerchr3:152857826..152888624hg17UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3812992
hg1912992
hg1812992
hg1712992
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7040, nssv4691, nssv10368, nssv2424, nssv340, nssv11069, nssv3208
SamplesNA12156, NA12878, NA18956, NA15510, NA18555, NA19240, NA19129
Known GenesMIR548H2
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)nsv4066
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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