A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv12



Internal ID15036911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:116277964..116312979hg38UCSC Ensembl
Outerchr7:115918018..115953033hg19UCSC Ensembl
Outerchr7:115705254..115740269hg18UCSC Ensembl
Outerchr7:115511969..115546984hg17UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg3835016
hg1935016
hg1835016
hg1735016
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv12
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)nsv12
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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