A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3989540



Internal ID19245016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:70481429..70481600hg38UCSC Ensembl
Outerchr4:71347146..71347317hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1135942
Supporting Variants
SamplesKWS2
Known GenesMUC7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3989540
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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