A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3985267



Internal ID18869028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:16136383..16136449hg38UCSC Ensembl
Outerchr1:16462878..16462944hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1126978
Supporting Variants
SamplesKWS1
Known GenesEPHA2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3985267
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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