A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv84



Internal ID15383557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:58326893..58352528hg38UCSC Ensembl
Outerchr12:58720676..58746311hg19UCSC Ensembl
Outerchr12:57006943..57032578hg18UCSC Ensembl
Outerchr12:57006943..57032578hg17UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3825636
hg1925636
hg1825636
hg1725636
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv84
Supporting Variants
SamplesNA15510
Known Genes
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)nssv84
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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