A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv181



Internal ID15383368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:51609870..51659280hg38UCSC Ensembl
Outerchr19:52113123..52162533hg19UCSC Ensembl
Outerchr19:56804935..56854345hg18UCSC Ensembl
Outerchr19:56804935..56854345hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3849411
hg1949411
hg1849411
hg1749411
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv181
Supporting Variants
SamplesNA15510
Known GenesSIGLEC14, SIGLEC5
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)nssv181
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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