A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537619



Internal ID15157096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:7182257..7220635hg38UCSC Ensembl
Innerchr4:7183984..7222362hg19UCSC Ensembl
Innerchr4:7234885..7273263hg18UCSC Ensembl
Innerchr4:7302056..7340434hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3838379
hg1938379
hg1838379
hg1738379
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461197
Supporting Variants
Samples1780862416_A
Known GenesSORCS2
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)nssv537619
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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