A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7292



Internal ID15552287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:30579336..30664332hg38UCSC Ensembl
Outerchr17:28906354..28991350hg19UCSC Ensembl
Outerchr17:25930480..26015476hg18UCSC Ensembl
Outerchr17:25930480..26015476hg17UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3884997
hg1984997
hg1884997
hg1784997
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5651, nssv10118, nssv10117
SamplesNA18956, NA19129
Known GenesLRRC37BP1, SH3GL1P2
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)nsv7292
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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