A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4002812



Internal ID18847237
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 StatusS
Merged Variantsnsv1149305
Supporting Variants
SamplesKWB1
Known GenesCHD5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4002812
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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