A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465638



Internal ID15179017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:40845848..40882954hg38UCSC Ensembl
Innerchr8:40703367..40740473hg19UCSC Ensembl
Innerchr8:40822524..40859630hg18UCSC Ensembl
Innerchr8:40822524..40859630hg17UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3837107
hg1937107
hg1837107
hg1737107
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541408
Samples1798860372_A
Known GenesZMAT4
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)nsv465638
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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