A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537622



Internal ID15508257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:7426172..7436625hg38UCSC Ensembl
Innerchr4:7427899..7438352hg19UCSC Ensembl
Innerchr4:7478800..7489252hg18UCSC Ensembl
Innerchr4:7545971..7556423hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3810454
hg1910454
hg1810453
hg1710453
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461204
Supporting Variants
SamplesHGDP00788
Known GenesPSAPL1, SORCS2
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)nssv537622
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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