A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv46



Internal ID15037126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:149850072..149881557hg38UCSC Ensembl
Outerchr1:149821639..149853107hg19UCSC Ensembl
Outerchr1:148088263..148119731hg18UCSC Ensembl
Outerchr1:146634712..146666180hg17UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3831486
hg1931469
hg1831469
hg1731469
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv46
SamplesNA15510
Known GenesHIST2H2AA3, HIST2H2AA4, HIST2H2BC, HIST2H3A, HIST2H3C, HIST2H4A, HIST2H4B
MethodSequencing
AnalysisFosmids were categorized as discordant if the in silico size was in excess of three standard deviations from the mean (<32 or 48> kb) and/or showed incorrect orientation of ends
PlatformCapillary
Comments
ReferenceTuzun_et_al_2005
Pubmed ID15895083
Accession Number(s)nsv46
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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