A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7969



Internal ID15189209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:70720666..70754529hg38UCSC Ensembl
Outerchr4:71586383..71620246hg19UCSC Ensembl
Outerchr4:71805247..71839110hg18UCSC Ensembl
Outerchr4:71951418..71985281hg17UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg385575
hg195575
hg185575
hg175575
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4380
Supporting Variants
SamplesNA12156
Known GenesRUFY3
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)nssv7969
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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