A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540327



Internal ID15156134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:23293751..23343516hg38UCSC Ensembl
Innerchr7:23333370..23383135hg19UCSC Ensembl
Innerchr7:23299895..23349660hg18UCSC Ensembl
Innerchr7:23106610..23156375hg17UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg3849766
hg1949766
hg1849766
hg1749766
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464408
Supporting Variants
Samples1780854545_A
Known GenesIGF2BP3, MALSU1
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)nssv540327
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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