A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132661



Internal ID18929173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:146905808..146910508hg38UCSC Ensembl
Outerchr7:146602900..146607600hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg384701
hg194701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3987448
SamplesKWS1
Known GenesCNTNAP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132661
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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