A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139910



Internal ID19261677
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 StatusM
Merged Variantsdgv3688n106
Supporting Variantsnssv3978246
SamplesKWS2
Known GenesCNTNAP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139910
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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