A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15645



Internal ID15835088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75221581..75222509hg38UCSC Ensembl
Outerchr7:75221461..75222562hg38UCSC Ensembl
Innerchr7:74637299..74638227hg19UCSC Ensembl
Outerchr7:74637179..74638280hg19UCSC Ensembl
Innerchr7:74275235..74276163hg18UCSC Ensembl
Outerchr7:74275115..74276216hg18UCSC Ensembl
Innerchr7:74081950..74082878hg17UCSC Ensembl
Outerchr7:74081830..74082931hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381102
hg191102
hg181102
hg171102
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8150
Supporting Variants
SamplesNA18537
Known GenesGTF2IP1, LOC100093631
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)nssv15645
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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