A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4001924



Internal ID18840203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:40642730..40642874hg38UCSC Ensembl
Outerchr1:41108402..41108546hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1150990
Supporting Variants
SamplesKWB1
Known GenesRIMS3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4001924
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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