A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540345



Internal ID15163085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:36577662..36792118hg38UCSC Ensembl
Innerchr7:36617268..36831723hg19UCSC Ensembl
Innerchr7:36583793..36798248hg18UCSC Ensembl
Innerchr7:36390508..36604963hg17UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg38214457
hg19214456
hg18214456
hg17214456
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464427
Supporting Variants
SamplesHGDP01077
Known GenesAOAH, AOAH-IT1
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)nssv540345
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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