A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461676



Internal ID15521741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:147006075..147041280hg38UCSC Ensembl
Innerchr4:147927227..147962432hg19UCSC Ensembl
Innerchr4:148146677..148181882hg18UCSC Ensembl
Innerchr4:148284832..148320037hg17UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg3835206
hg1935206
hg1835206
hg1735206
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538037
Samples1780854489_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)nsv461676
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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