A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461598



Internal ID8488645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:102886563..103032232hg38UCSC Ensembl
Innerchr4:103807720..103953389hg19UCSC Ensembl
Innerchr4:104027155..104172838hg18UCSC Ensembl
Innerchr4:104165310..104310993hg17UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg38145670
hg19145670
hg18145684
hg17145684
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537972
SamplesNINDS_162
Known GenesCISD2, SLC9B1, SLC9B2
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)nsv461598
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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