A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998957



Internal ID16945223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:14082589..14210288hg38UCSC Ensembl
Outerchr19:14193401..14321100hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38127700
hg19127700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953980
Supporting Variants
SamplesBILGI_BIOE
Known GenesASF1B, C19orf67, LOC100507373, LPHN1, PRKACA, SAMD1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998957
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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