A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537720



Internal ID15503203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:28590532..28659904hg38UCSC Ensembl
Innerchr4:28592154..28661526hg19UCSC Ensembl
Innerchr4:28201252..28270624hg18UCSC Ensembl
Innerchr4:28268423..28337795hg17UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3869373
hg1969373
hg1869373
hg1769373
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461313
Supporting Variants
Samples1780862109_A
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)nssv537720
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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