A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4511



Internal ID15192552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:233577887..233605512hg38UCSC Ensembl
Outerchr2:234486533..234514158hg19UCSC Ensembl
Outerchr2:234147989..234178897hg18UCSC Ensembl
Outerchr2:234265250..234296158hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3827626
hg1927626
hg1830909
hg1730909
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7336
Supporting Variants
SamplesNA12878
Known Genes
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)nssv4511
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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