A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541024



Internal ID15164033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:142642726..142780878hg38UCSC Ensembl
Innerchr7:142350234..142488688hg19UCSC Ensembl
Innerchr7:142031222..142188690hg18UCSC Ensembl
Innerchr7:141837937..141995405hg17UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38138153
hg19138455
hg18157469
hg17157469
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465168
Supporting Variants
SamplesHGDP01287
Known GenesMTRNR2L6, PRSS1, PRSS2, PRSS3P2
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)nssv541024
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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