A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3990246



Internal ID18887024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:18315742..18315833hg38UCSC Ensembl
Outerchr1:18642236..18642327hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1137738
Supporting Variants
SamplesKWS2
Known GenesIGSF21
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3990246
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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