A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4510



Internal ID15192551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:233533033..233562681hg38UCSC Ensembl
Outerchr2:234441679..234471327hg19UCSC Ensembl
Outerchr2:234106418..234141844hg18UCSC Ensembl
Outerchr2:234223679..234259105hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3829649
hg1929649
hg1835427
hg1735427
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7336
Supporting Variants
SamplesNA12878
Known GenesUSP40
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)nssv4510
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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