A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7042



Internal ID15190136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:149843543..149889935hg38UCSC Ensembl
Outerchr1:149815110..149861485hg19UCSC Ensembl
Outerchr1:148081734..148128109hg18UCSC Ensembl
Outerchr1:146628183..146674558hg17UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3846393
hg1946376
hg1846376
hg1746376
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7182
Supporting Variants
SamplesNA12156
Known GenesHIST2H2AA3, HIST2H2AA4, HIST2H2AB, HIST2H2AC, HIST2H2BC, HIST2H2BE, HIST2H3A, HIST2H3C, HIST2H4A, HIST2H4B
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)nssv7042
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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