A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7336



Internal ID15205649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:233520002..233618408hg38UCSC Ensembl
Outerchr2:234428648..234527054hg19UCSC Ensembl
Outerchr2:234093387..234191793hg18UCSC Ensembl
Outerchr2:234210648..234309054hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3898407
hg1998407
hg1898407
hg1798407
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4511, nssv9588, nssv10273, nssv1578, nssv5856, nssv6913, nssv6912, nssv9358, nssv1579, nssv9589, nssv4510, nssv9360
SamplesNA18507, NA12156, NA12878, NA18956, NA18517, NA19240, NA19129
Known GenesUGT1A8, USP40
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)nsv7336
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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