A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997365



Internal ID16943631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:153415425..153419724hg38UCSC Ensembl
Outerchr1:153387901..153392200hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg384300
hg194300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952211
Supporting Variants
SamplesBILGI_BIOE
Known GenesS100A7A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997365
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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