A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3119



Internal ID15194170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:9610394..9625340hg38UCSC Ensembl
Outerchr1:9670452..9685398hg19UCSC Ensembl
Outerchr1:9593039..9607985hg18UCSC Ensembl
Outerchr1:9604718..9619664hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg386238
hg196238
hg186238
hg176238
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2187
Supporting Variants
SamplesNA18555
Known GenesTMEM201
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)nssv3119
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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