A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3980617



Internal ID18860997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:91766500..91767782hg38UCSC Ensembl
Outerchr1:92232057..92233339hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381283
hg191283
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143420
Supporting Variants
SamplesKWS1
Known GenesTGFBR3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3980617
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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