A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115004



Internal ID19281365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:130436578..130436645hg38UCSC Ensembl
Outerchr7:130076419..130076486hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3975308, nssv3958342
SamplesKWS2, KWS1
Known GenesCEP41
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115004
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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