A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3989706



Internal ID19233482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:192820770..192830270hg38UCSC Ensembl
Outerchr1:192789900..192799400hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg389501
hg199501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1136102
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3989706
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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