A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3995211



Internal ID19217244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:200346359..200346422hg38UCSC Ensembl
Outerchr1:200315487..200315550hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1144422
Supporting Variants
SamplesKWS1
Known GenesLINC00862
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3995211
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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