A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16812



Internal ID15832576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:7189011..7190000hg38UCSC Ensembl
Outerchr7:7188473..7190831hg38UCSC Ensembl
Innerchr7:7228642..7229631hg19UCSC Ensembl
Outerchr7:7228104..7230462hg19UCSC Ensembl
Innerchr7:7195167..7196156hg18UCSC Ensembl
Outerchr7:7194629..7196987hg18UCSC Ensembl
Innerchr7:7001882..7002871hg17UCSC Ensembl
Outerchr7:7001344..7003702hg17UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg382359
hg192359
hg182359
hg172359
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8041
Supporting Variants
SamplesNA18502
Known GenesC1GALT1
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv16812
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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