A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1135250



Internal ID18933520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:141414101..141414384hg38UCSC Ensembl
Outerchr7:141113901..141114184hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38284
hg19284
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3679n106
Supporting Variantsnssv3988807
SamplesKWS2
Known GenesTMEM178B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1135250
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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