A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999195



Internal ID16945461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:203164873..203186672hg38UCSC Ensembl
Outerchr1:203134001..203155800hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3821800
hg1921800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952639
Supporting Variants
SamplesBILGI_BIOE
Known GenesADORA1, CHI3L1, MYBPH
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999195
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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