A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461199



Internal ID15521264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:7251533..7268399hg38UCSC Ensembl
Innerchr4:7253260..7270126hg19UCSC Ensembl
Innerchr4:7304161..7321027hg18UCSC Ensembl
Innerchr4:7371332..7388198hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3816867
hg1916867
hg1816867
hg1716867
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537620
SamplesHGDP01283
Known GenesSORCS2
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)nsv461199
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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