A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3988385



Internal ID18860699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:75809018..75822618hg38UCSC Ensembl
Outerchr7:75438336..75451936hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3813601
hg1913601
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1134897
Supporting Variants
SamplesKWS1
Known GenesCCL24
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3988385
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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