A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7274



Internal ID15205581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1194371..1291100hg38UCSC Ensembl
Outerchr16:1244371..1341101hg19UCSC Ensembl
Outerchr16:1184372..1281102hg18UCSC Ensembl
Outerchr16:1184372..1281102hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3896730
hg1996731
hg1896731
hg1796731
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2128, nssv4188, nssv6654, nssv4187, nssv5581, nssv1290, nssv10074, nssv9520, nssv6655, nssv10073, nssv1289, nssv2127, nssv9310
SamplesNA18517, NA18507, NA18956, NA19129, NA12156, NA12878, NA19240, NA18555
Known GenesCACNA1H, TPSAB1, TPSB2, TPSD1, TPSG1
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)nsv7274
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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