A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977542



Internal ID19244026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:27503281..27506381hg38UCSC Ensembl
Outerchr7:27542900..27546000hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg383101
hg193101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115735
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977542
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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