A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953958



Internal ID16956145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:7584715..7650814hg38UCSC Ensembl
Outerchr19:7649601..7715700hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3866100
hg1966100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998937
SamplesBILGI_BIOE
Known GenesCAMSAP3, MIR6792, PCP2, PET100, STXBP2, XAB2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953958
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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