A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3968621



Internal ID19239179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:48951930..48952430hg38UCSC Ensembl
Outerchr18:46478300..46478800hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1121950
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3968621
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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