A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998921



Internal ID16945187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1371602..2057401hg38UCSC Ensembl
Outerchr19:1371601..2057400hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38685800
hg19685800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953942
Supporting Variants
SamplesBILGI_BIOE
Known GenesABHD17A, ADAMTSL5, ADAT3, APC2, ATP8B3, BTBD2, C19orf25, CSNK1G2, CSNK1G2-AS1, DAZAP1, GAMT, KLF16, LOC100288123, MBD3, MEX3D, MIR1909, MKNK2, MUM1, NDUFS7, ONECUT3, PCSK4, PLK5, REEP6, REXO1, RPS15, SCAMP4, TCF3, UQCR11
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998921
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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