A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124997



Internal ID19276236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:7572878..7574678hg38UCSC Ensembl
Outerchr8:7430400..7432200hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381801
hg191801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977803
SamplesKWS2
Known GenesFAM90A7P
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124997
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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