A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3970165



Internal ID18897575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:40090402..40090454hg38UCSC Ensembl
Outerchr1:40556074..40556126hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1133843
Supporting Variants
SamplesKWS2
Known GenesPPT1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3970165
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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