A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1149305



Internal ID18848488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:6149539..6150940hg38UCSC Ensembl
Outerchr1:6209599..6211000hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg381402
hg191402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4002812
SamplesKWB1
Known GenesCHD5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1149305
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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