A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461598



Internal ID6047477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:103807720..103953389hg19UCSC Ensembl
Innerchr4:104027155..104172838hg18UCSC Ensembl
Innerchr4:104165310..104310993hg17UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv537972
SamplesNINDS_162
Known GenesCISD2, SLC9B1, SLC9B2
MethodSNP_genotyping_analysis
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 Provided
Comments
ReferenceItsara et al 2009
Pubmed ID19166990
Accession Number(s)nsv461598
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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