A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14920



Internal ID15485030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102456721..102478984hg38UCSC Ensembl
Outerchr7:102450605..102479494hg38UCSC Ensembl
Innerchr7:102097168..102119431hg19UCSC Ensembl
Outerchr7:102091052..102119941hg19UCSC Ensembl
Innerchr7:101884173..101906436hg18UCSC Ensembl
Outerchr7:101878057..101906946hg18UCSC Ensembl
Innerchr7:101690888..101713151hg17UCSC Ensembl
Outerchr7:101684772..101713661hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3828890
hg1928890
hg1828890
hg1728890
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8192
Supporting Variants
SamplesNA12802
Known GenesALKBH4, LRWD1, MIR4467, MIR5090, ORAI2, POLR2J
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)nssv14920
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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