A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997757



Internal ID17290709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:61331074..61333373hg38UCSC Ensembl
Outerchr5:60626901..60629200hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg382300
hg192300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950068
Supporting Variants
SamplesBILGI_BIOE
Known GenesZSWIM6
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997757
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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