A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994252



Internal ID19212425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:19643906..19644806hg38UCSC Ensembl
Outerchr1:19970400..19971300hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142753
Supporting Variants
SamplesKWS1
Known GenesMINOS1-NBL1, NBL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994252
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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