A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540188



Internal ID15156074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:139113..200682hg38UCSC Ensembl
Innerchr7:139113..200682hg19UCSC Ensembl
Innerchr7:234196..295765hg18UCSC Ensembl
Innerchr7:234196..295765hg17UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3861570
hg1961570
hg1861570
hg1761570
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464243
Supporting Variants
Samples1780854524_A
Known GenesFAM20C, LOC100507642
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)nssv540188
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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