A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3961804



Internal ID18871986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:20294634..20294701hg38UCSC Ensembl
Outerchr1:20621127..20621194hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1129128
Supporting Variants
SamplesKWS1
Known GenesVWA5B1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3961804
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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