A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3968412



Internal ID18890343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:43530829..43531629hg38UCSC Ensembl
Outerchr1:43996500..43997300hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1121762
Supporting Variants
SamplesKWS2
Known GenesPTPRF
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3968412
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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