A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3985072



Internal ID18861027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:76515483..76532883hg38UCSC Ensembl
Outerchr7:76144800..76162200hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3817401
hg1917401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1126799
Supporting Variants
SamplesKWS1
Known GenesUPK3B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3985072
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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