A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978246



Internal ID19241012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:146504208..146510908hg38UCSC Ensembl
Outerchr7:146201300..146208000hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg386701
hg196701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139910
Supporting Variants
SamplesKWS2
Known GenesCNTNAP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978246
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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