A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537765



Internal ID15505136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:60421468..60493666hg38UCSC Ensembl
Innerchr4:61287186..61359384hg19UCSC Ensembl
Innerchr4:60969781..61041979hg18UCSC Ensembl
Innerchr4:61115952..61188150hg17UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3872199
hg1972199
hg1872199
hg1772199
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461374
Supporting Variants
SamplesHGDP00056
Known Genes
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)nssv537765
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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