A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1376



Internal ID15544337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:51930411..51937947hg38UCSC Ensembl
Outerchr17:50007771..50015307hg19UCSC Ensembl
Outerchr17:47362770..47370306hg18UCSC Ensembl
Outerchr17:47362770..47370306hg17UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg387950
hg197950
hg187950
hg177950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2087
Supporting Variants
SamplesNA19240
Known GenesCA10
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)nssv1376
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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