A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7279



Internal ID15552272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:20465853..20559504hg38UCSC Ensembl
Outerchr16:20477175..20570826hg19UCSC Ensembl
Outerchr16:20384676..20478327hg18UCSC Ensembl
Outerchr16:20384676..20478327hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3893652
hg1993652
hg1893652
hg1793652
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9312, nssv4201, nssv9311
SamplesNA12878, NA18517
Known GenesACSM2A, ACSM2B
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)nsv7279
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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