A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950195



Internal ID17299069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:75373016..75384215hg38UCSC Ensembl
Outerchr1:75838701..75849900hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3811200
hg1911200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997162
SamplesBILGI_BIOE
Known GenesSLC44A5
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950195
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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