A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv284



Internal ID15383770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:31957962..32028944hg38UCSC Ensembl
Outerchr6:31925739..31996721hg19UCSC Ensembl
Outerchr6:32033718..32104699hg18UCSC Ensembl
Outerchr6:32033718..32104699hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3870983
hg1970983
hg1870982
hg1770982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv284
SamplesNA15510
Known GenesC4A, C4B, C4B_2, CYP21A1P, CYP21A2, DXO, NELFE, SKIV2L, STK19, TNXA, TNXB
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)nsv284
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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