A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541088



Internal ID15511022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:157809604..157866004hg38UCSC Ensembl
Innerchr7:157602296..157658696hg19UCSC Ensembl
Innerchr7:157295057..157351457hg18UCSC Ensembl
Innerchr7:157101772..157158172hg17UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3856401
hg1956401
hg1856401
hg1756401
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465252
Supporting Variants
SamplesHGDP01339
Known GenesLOC100506585, PTPRN2
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv541088
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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