A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7177



Internal ID8519142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:39480082..39801618hg38UCSC Ensembl
Outerchr1:39945754..40267290hg19UCSC Ensembl
Outerchr1:39718341..40039877hg18UCSC Ensembl
Outerchr1:39614847..39936383hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38321537
hg19321537
hg18321537
hg17321537
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6576, nssv10825, nssv5516
SamplesNA18956, NA19129, NA12156
Known GenesBMP8A, BMP8B, HEYL, HPCAL4, MACF1, NT5C1A, OXCT2, PABPC4, PPIE, PPIEL, SNORA55
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)nsv7177
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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