A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv365



Internal ID15544808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:4306972..4337674hg38UCSC Ensembl
Outerchr4:4308699..4339401hg19UCSC Ensembl
Outerchr4:4359600..4390302hg18UCSC Ensembl
Outerchr4:4426771..4457473hg17UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg3810290
hg1910290
hg1810290
hg1710290
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4205
Supporting Variants
SamplesNA19240
Known GenesZBTB49
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)nssv365
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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