A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998316



Internal ID16944582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:23520192..23582591hg38UCSC Ensembl
Outerchr14:23989401..24051800hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3862400
hg1962400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952817
Supporting Variants
SamplesBILGI_BIOE
Known GenesAP1G2, JPH4, THTPA, ZFHX2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998316
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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