A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130568



Internal ID18902744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:141414063..141414382hg38UCSC Ensembl
Outerchr7:141113863..141114182hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3679n106
Supporting Variantsnssv3986765, nssv3989272
SamplesKWS2, KWS1
Known GenesTMEM178B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130568
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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