A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4152



Internal ID15548833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:186474643..186494872hg38UCSC Ensembl
Outerchr3:186192432..186212661hg19UCSC Ensembl
Outerchr3:187675126..187695355hg18UCSC Ensembl
Outerchr3:187675134..187695363hg17UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg387564
hg197564
hg187564
hg177564
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2435
SamplesNA18555
Known GenesLOC253573
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)nsv4152
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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