A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540528



Internal ID15505265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:90632060..90681223hg38UCSC Ensembl
Innerchr7:90261374..90310537hg19UCSC Ensembl
Innerchr7:90099310..90148473hg18UCSC Ensembl
Innerchr7:89906025..89955188hg17UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg3849164
hg1949164
hg1849164
hg1749164
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv464640
Supporting Variants
SamplesHGDP00090
Known GenesCDK14
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)nssv540528
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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