A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3982753



Internal ID19204666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:43225602..43225665hg38UCSC Ensembl
Outerchr10:43721050..43721113hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1119806
Supporting Variants
SamplesKWS1
Known GenesRASGEF1A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3982753
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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