A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15904



Internal ID15481737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:100739460..100744060hg38UCSC Ensembl
Outerchr7:100643114..100748322hg38UCSC Ensembl
Innerchr7:100337083..100341683hg19UCSC Ensembl
Outerchr7:100240737..100345945hg19UCSC Ensembl
Innerchr7:100175019..100179619hg18UCSC Ensembl
Outerchr7:100078673..100183881hg18UCSC Ensembl
Innerchr7:99981734..99986334hg17UCSC Ensembl
Outerchr7:99885388..99990596hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38105209
hg19105209
hg18105209
hg17105209
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8184
Supporting Variants
SamplesNA10839
Known GenesACTL6B, EPO, GIGYF1, GNB2, POP7, ZAN
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)nssv15904
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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