A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000907



Internal ID16947173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:230735586..230739285hg38UCSC Ensembl
Outerchr2:231600301..231604000hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg383700
hg193700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953197
Supporting Variants
SamplesBILGI_BIOE
Known GenesCAB39
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000907
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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