A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3984421



Internal ID19207669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:33050899..33051899hg38UCSC Ensembl
Outerchr1:33516500..33517500hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1126192
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3984421
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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