A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17982



Internal ID15833109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102456721..102690272hg38UCSC Ensembl
Outerchr7:102450605..102691799hg38UCSC Ensembl
Innerchr7:102097168..102330719hg19UCSC Ensembl
Outerchr7:102091052..102332246hg19UCSC Ensembl
Innerchr7:101884173..102117955hg18UCSC Ensembl
Outerchr7:101878057..102119482hg18UCSC Ensembl
Innerchr7:101690888..101924670hg17UCSC Ensembl
Outerchr7:101684772..101926197hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38241195
hg19241195
hg18241426
hg17241426
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8192
Supporting Variants
SamplesNA18502
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)nssv17982
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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