A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998416



Internal ID16944682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:102902464..102934263hg38UCSC Ensembl
Outerchr14:103368801..103400600hg19UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg3831800
hg1931800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952256
Supporting Variants
SamplesBILGI_BIOE
Known GenesAMN, CDC42BPB, TRAF3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998416
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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