A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3980648



Internal ID18869986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:42334929..42335229hg38UCSC Ensembl
Outerchr1:42800600..42800900hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143447
Supporting Variants
SamplesKWS1
Known GenesFOXJ3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3980648
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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