A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv339



Internal ID15198443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:151427603..151432611hg38UCSC Ensembl
Outerchr3:151145391..151150399hg19UCSC Ensembl
Outerchr3:152628081..152633089hg18UCSC Ensembl
Outerchr3:152628089..152633097hg17UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg387088
hg197088
hg187088
hg177088
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4063
Supporting Variants
SamplesNA19240
Known GenesMED12L
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)nssv339
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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