A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992246



Internal ID18864626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:3681869..3681946hg38UCSC Ensembl
Outerchr1:3598433..3598510hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1140740
Supporting Variants
SamplesKWS1
Known GenesTP73
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992246
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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