A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8044



Internal ID15535820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:183957731..183972681hg38UCSC Ensembl
Outerchr4:184878884..184893834hg19UCSC Ensembl
Outerchr4:185115878..185130828hg18UCSC Ensembl
Outerchr4:185254033..185268983hg17UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg385736
hg195736
hg185736
hg175736
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4637
Supporting Variants
SamplesNA12156
Known GenesSTOX2
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)nssv8044
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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