A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3385



Internal ID15538113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:129619196..129651582hg38UCSC Ensembl
Outerchr5:128954889..128987275hg19UCSC Ensembl
Outerchr5:128982788..129015174hg18UCSC Ensembl
Outerchr5:128982788..129015174hg17UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg387268
hg197268
hg187268
hg177268
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5000
Supporting Variants
SamplesNA12878
Known GenesADAMTS19
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)nssv3385
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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