A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992341



Internal ID19226398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:116830107..116830181hg38UCSC Ensembl
Outerchr7:116470161..116470235hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1140838
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992341
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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