A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7177



Internal ID5087253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:39945754..40267290hg19UCSC Ensembl
Outerchr1:39718341..40039877hg18UCSC Ensembl
Outerchr1:39614847..39936383hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeOTHER Inversion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv6576, nssv10825, nssv5516
SamplesNA18956, NA19129, NA12156
Known GenesBMP8A, BMP8B, HEYL, HPCAL4, MACF1, NT5C1A, OXCT2, PABPC4, PPIE, PPIEL, SNORA55
Method
AnalysisSample level sites were merged to generate a set of non-redundant variant regions. Two non-redundant inversion variants (chr 2 positions 89438708-89655419 and 89958869-91208466) were corrected from the original publication for coordinates and associated sample-level data.
PlatformCapillary
Comments
ReferenceKidd et al 2008
Pubmed ID18451855
Accession Number(s)nsv7177
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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