A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv175



Internal ID15383361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:38782271..38821642hg38UCSC Ensembl
Outerchr19:39272911..39312282hg19UCSC Ensembl
Outerchr19:43964751..44004122hg18UCSC Ensembl
Outerchr19:43964751..44004122hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3839372
hg1939372
hg1839372
hg1739372
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv175
Supporting Variants
SamplesNA15510
Known GenesECH1, LGALS4, LGALS7B
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)nssv175
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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