A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3195



Internal ID15191237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:128123458..128144743hg38UCSC Ensembl
Outerchr3:127842301..127863586hg19UCSC Ensembl
Outerchr3:129324991..129346276hg18UCSC Ensembl
Outerchr3:129324999..129346284hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg386968
hg196968
hg186968
hg176968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3992
Supporting Variants
SamplesNA12878
Known GenesRUVBL1
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)nssv3195
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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