A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv78



Internal ID15036864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:13385198..13421803hg38UCSC Ensembl
Outerchr12:13538132..13574737hg19UCSC Ensembl
Outerchr12:13429399..13466004hg18UCSC Ensembl
Outerchr12:13429399..13466004hg17UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3836606
hg1936606
hg1836606
hg1736606
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv78
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)nssv78
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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