A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998956



Internal ID16945222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:13795787..14006888hg38UCSC Ensembl
Outerchr19:13906601..14117700hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38211102
hg19211100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953979
Supporting Variants
SamplesBILGI_BIOE
Known GenesC19orf57, CC2D1A, DCAF15, LOC284454, MIR181C, MIR181D, MIR23A, MIR24-2, MIR27A, NANOS3, PODNL1, RFX1, ZSWIM4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998956
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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