A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1145196



Internal ID18914872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:70403365..70403865hg38UCSC Ensembl
Outerchr8:71315600..71316100hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3982280
SamplesKWS1
Known GenesNCOA2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1145196
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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