A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612893



Internal ID16400302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143690674..143778707hg38UCSC Ensembl
Innerchr8:144772844..144860877hg19UCSC Ensembl
Innerchr8:144844832..144932865hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3888034
hg1988034
hg1888034
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1156383
Samples1780862444_A
Known GenesBREA2, CCDC166, FAM83H, FAM83H-AS1, MAPK15, MIR4664, ZNF707
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612893
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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