A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv955244



Internal ID16957431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:11518444..11537643hg38UCSC Ensembl
Outerchr1:11578501..11597700hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3819200
hg1919200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001789
SamplesBILGI_BIOE
Known GenesPTCHD2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv955244
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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