A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7289



Internal ID15205597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:9012005..9678847hg38UCSC Ensembl
Outerchr17:8915322..9582164hg19UCSC Ensembl
Outerchr17:8856047..9522889hg18UCSC Ensembl
Outerchr17:8856047..9522889hg17UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38666843
hg19666843
hg18666843
hg17666843
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10109, nssv2162, nssv4251, nssv9320, nssv2163, nssv1344
SamplesNA12878, NA18956, NA18555, NA18517, NA19240
Known GenesNTN1, STX8, USP43, WDR16
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)nsv7289
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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