A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540533



Internal ID15511440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:99157649..99190966hg38UCSC Ensembl
Innerchr7:98755272..98788589hg19UCSC Ensembl
Innerchr7:98593208..98626525hg18UCSC Ensembl
Innerchr7:98399923..98433240hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3833318
hg1933318
hg1833318
hg1733318
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464646
Supporting Variants
SamplesHGDP01418
Known GenesKPNA7
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)nssv540533
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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