A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994288



Internal ID18878822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:156082409..156084709hg38UCSC Ensembl
Outerchr1:156052200..156054500hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg382301
hg192301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142784
Supporting Variants
SamplesKWS1
Known GenesLMNA, MIR7851
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994288
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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