A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2788



Internal ID15541780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236699164..236733226hg38UCSC Ensembl
Outerchr1:236862464..236896526hg19UCSC Ensembl
Outerchr1:234929087..234963149hg18UCSC Ensembl
Outerchr1:233188505..233222567hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg385934
hg195934
hg185934
hg175934
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4988
Supporting Variants
SamplesNA18555
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)nssv2788
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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