A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987440



Internal ID18867446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:100949668..100962871hg38UCSC Ensembl
Outerchr7:100547300..100554700hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3813204
hg197401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132653
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987440
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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