A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv297



Internal ID15037107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:76513281..76553042hg38UCSC Ensembl
Outerchr7:76142598..76182359hg19UCSC Ensembl
Outerchr7:75980534..76020295hg18UCSC Ensembl
Outerchr7:75787249..75827010hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3839762
hg1939762
hg1839762
hg1739762
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv297
SamplesNA15510
Known GenesLOC100133091, UPK3B
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)nsv297
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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