A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132093



Internal ID18929701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:147347420..147347478hg38UCSC Ensembl
Outerchr7:147044512..147044570hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3986770
SamplesKWS1
Known GenesCNTNAP2, MIR548I4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132093
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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