A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9



Internal ID15036877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:102591526..102696287hg38UCSC Ensembl
Outerchr7:102231973..102336734hg19UCSC Ensembl
Outerchr7:102019041..102123970hg18UCSC Ensembl
Outerchr7:101825756..101930685hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38104762
hg19104762
hg18104930
hg17104930
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv9
Supporting Variants
SamplesNA15510
Known GenesPOLR2J2, POLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B, UPK3BL
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)nssv9
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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