A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3965010



Internal ID19235832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:197531387..197534136hg38UCSC Ensembl
Outerchr1:197500517..197503266hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg382750
hg192750
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1129875
Supporting Variants
SamplesKWS2
Known GenesDENND1B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3965010
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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