A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv173



Internal ID15036673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:35346502..35375933hg38UCSC Ensembl
Outerchr19:35837405..35866835hg19UCSC Ensembl
Outerchr19:40529245..40558675hg18UCSC Ensembl
Outerchr19:40529245..40558675hg17UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3829432
hg1929431
hg1829431
hg1729431
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv173
Supporting Variants
SamplesNA15510
Known GenesCD22, FFAR1, FFAR3
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)nssv173
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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