A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999192



Internal ID17292144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:340001..382900hg38UCSC Ensembl
Outerchr16:390001..432900hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3842900
hg1942900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952897
Supporting Variants
SamplesBILGI_BIOE
Known GenesAXIN1, LOC100134368, MRPL28, TMEM8A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999192
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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