A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461597



Internal ID15521662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:102046925..102095721hg38UCSC Ensembl
Innerchr4:102968082..103016878hg19UCSC Ensembl
Innerchr4:103187105..103235901hg18UCSC Ensembl
Innerchr4:103325260..103374056hg17UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg3848797
hg1948797
hg1848797
hg1748797
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537971
SamplesHGDP01177
Known GenesBANK1
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)nsv461597
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer