A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24605



Internal ID15487481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6438767..6455274hg38UCSC Ensembl
Outerchr1:6417968..6531944hg38UCSC Ensembl
Innerchr1:6498827..6515334hg19UCSC Ensembl
Outerchr1:6478028..6592004hg19UCSC Ensembl
Innerchr1:6421414..6437921hg18UCSC Ensembl
Outerchr1:6400615..6514591hg18UCSC Ensembl
Innerchr1:6433093..6449600hg17UCSC Ensembl
Outerchr1:6412294..6526270hg17UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38113977
hg19113977
hg18113977
hg17113977
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7880
Supporting Variants
SamplesNA18517
Known GenesESPN, HES2, MIR4252, NOL9, PLEKHG5, TNFRSF25
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)nssv24605
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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