A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16926



Internal ID15482919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144337923..144341038hg38UCSC Ensembl
Outerchr7:144337401..144341293hg38UCSC Ensembl
Innerchr7:144035016..144038131hg19UCSC Ensembl
Outerchr7:144034494..144038386hg19UCSC Ensembl
Innerchr7:143665949..143669064hg18UCSC Ensembl
Outerchr7:143665427..143669319hg18UCSC Ensembl
Innerchr7:143472664..143475779hg17UCSC Ensembl
Outerchr7:143472142..143476034hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg383893
hg193893
hg183893
hg173893
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8227
Supporting Variants
SamplesNA10863
Known GenesRNU6-57P
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)nssv16926
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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