A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10547



Internal ID15542251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236729884..236760383hg38UCSC Ensembl
Outerchr1:236893184..236923683hg19UCSC Ensembl
Outerchr1:234959807..234990306hg18UCSC Ensembl
Outerchr1:233219225..233249724hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg389006
hg199006
hg189006
hg179006
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4988
Supporting Variants
SamplesNA18956
Known GenesACTN2
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)nssv10547
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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