A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16498



Internal ID15495940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102475068..102677039hg38UCSC Ensembl
Outerchr7:102456721..102677210hg38UCSC Ensembl
Innerchr7:102115515..102317486hg19UCSC Ensembl
Outerchr7:102097168..102317657hg19UCSC Ensembl
Innerchr7:101902520..102104722hg18UCSC Ensembl
Outerchr7:101884173..102104893hg18UCSC Ensembl
Innerchr7:101709235..101911437hg17UCSC Ensembl
Outerchr7:101690888..101911608hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38220490
hg19220490
hg18220721
hg17220721
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8192
Supporting Variants
SamplesNA19144
Known GenesALKBH4, LRWD1, MIR4467, MIR5090, ORAI2, POLR2J, POLR2J2, POLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B, UPK3BL
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)nssv16498
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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