A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110996



Internal ID19262558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:21856624..21867937hg38UCSC Ensembl
Outerchr1:22183117..22194430hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3811314
hg1911314
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961425
SamplesKWS1
Known GenesHSPG2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110996
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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