A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7040



Internal ID15536824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:151662245..151680289hg38UCSC Ensembl
Outerchr3:151380033..151398077hg19UCSC Ensembl
Outerchr3:152862723..152880767hg18UCSC Ensembl
Outerchr3:152862731..152880775hg17UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3812992
hg1912992
hg1812992
hg1712992
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4066
Supporting Variants
SamplesNA12156
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)nssv7040
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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