A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1137303



Internal ID18913096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:148263143..148263207hg38UCSC Ensembl
Outerchr7:147960235..147960299hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3975994
SamplesKWS2
Known GenesCNTNAP2, MIR548T
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1137303
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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