A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4689



Internal ID15543071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:150720633..150752549hg38UCSC Ensembl
Outerchr3:150438420..150470336hg19UCSC Ensembl
Outerchr3:151921110..151953026hg18UCSC Ensembl
Outerchr3:151921118..151953034hg17UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg387368
hg197368
hg187368
hg177368
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4061
Supporting Variants
SamplesNA19129
Known GenesSIAH2
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)nssv4689
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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