A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997149



Internal ID16943415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:50416429..50428128hg38UCSC Ensembl
Outerchr1:50882101..50893800hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3811700
hg1911700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950717
Supporting Variants
SamplesBILGI_BIOE
Known GenesDMRTA2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997149
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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