A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466007



Internal ID15179386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143690674..143778707hg38UCSC Ensembl
Innerchr8:144772844..144860877hg19UCSC Ensembl
Innerchr8:144844832..144932865hg18UCSC Ensembl
Innerchr8:144844832..144932865hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3888034
hg1988034
hg1888034
hg1788034
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541660
Samples1780862444_A
Known GenesBREA2, CCDC166, FAM83H, FAM83H-AS1, MAPK15, MIR4664, ZNF707
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)nsv466007
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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