A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3982493



Internal ID19207550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:155520111..155520181hg38UCSC Ensembl
Outerchr1:155489902..155489972hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1145374
Supporting Variants
SamplesKWS1
Known GenesASH1L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3982493
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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