A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997588



Internal ID16943854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:855964..1074664hg38UCSC Ensembl
Outerchr7:895601..1114300hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38218701
hg19218700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950784
Supporting Variants
SamplesBILGI_BIOE
Known GenesADAP1, C7orf50, COX19, CYP2W1, GET4, GPR146, MIR339, SUN1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997588
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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