A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19830



Internal ID15497068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143522114..143599933hg38UCSC Ensembl
Outerchr7:143520203..143600083hg38UCSC Ensembl
Innerchr7:143219207..143297026hg19UCSC Ensembl
Outerchr7:143217296..143297176hg19UCSC Ensembl
Innerchr7:142929329..143007148hg18UCSC Ensembl
Outerchr7:142927418..143007298hg18UCSC Ensembl
Innerchr7:142736044..142813863hg17UCSC Ensembl
Outerchr7:142734133..142814013hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3879881
hg1979881
hg1879881
hg1779881
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8227
Supporting Variants
SamplesNA19221
Known GenesCTAGE15, EPHA1-AS1
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)nssv19830
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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