A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6



Internal ID15383818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:97756261..97793986hg38UCSC Ensembl
Outerchr7:97385573..97423298hg19UCSC Ensembl
Outerchr7:97223509..97261234hg18UCSC Ensembl
Outerchr7:97030224..97067949hg17UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg3837726
hg1937726
hg1837726
hg1737726
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6
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)nsv6
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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