A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3959393



Internal ID19221614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:27587289..27589789hg38UCSC Ensembl
Outerchr1:27913800..27916300hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg382501
hg192501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1110128
Supporting Variants
SamplesKWS1
Known GenesAHDC1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3959393
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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