A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10383



Internal ID15195729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:187166818..187197844hg38UCSC Ensembl
Outerchr3:186884606..186915632hg19UCSC Ensembl
Outerchr3:188367300..188398326hg18UCSC Ensembl
Outerchr3:188367308..188398334hg17UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg388476
hg198476
hg188476
hg178476
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4158
Supporting Variants
SamplesNA18956
Known GenesRTP1
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)nssv10383
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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