A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999898



Internal ID16946164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:58466134..58600733hg38UCSC Ensembl
Outerchr19:58977501..59112100hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38134600
hg19134600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952156
Supporting Variants
SamplesBILGI_BIOE
Known GenesCENPBD1P1, CHMP2A, LOC100131691, MIR6807, MZF1, SLC27A5, TRIM28, UBE2M, ZBTB45, ZNF324, ZNF446
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999898
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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