A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987442



Internal ID18871587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:142219500..142224300hg38UCSC Ensembl
Outerchr7:141919300..141924100hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg384801
hg194801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132655
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987442
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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