A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3996240



Internal ID19191225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:134747828..134747884hg38UCSC Ensembl
Outerchr9:137639674..137639730hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1150766
Supporting Variants
SamplesKWB1
Known GenesCOL5A1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3996240
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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