A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001292



Internal ID16947558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:237542358..237545157hg38UCSC Ensembl
Outerchr2:238451001..238453800hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382800
hg192800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953213
Supporting Variants
SamplesBILGI_BIOE
Known GenesMLPH
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001292
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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