A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125927



Internal ID18916715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:148061912..148061992hg38UCSC Ensembl
Outerchr7:147759004..147759084hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984131
SamplesKWS2
Known GenesCNTNAP2, MIR548F3, MIR548T
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125927
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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