A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110660



Internal ID18927566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:51804406..51804482hg38UCSC Ensembl
Outerchr1:52270078..52270154hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3960315
SamplesKWS1
Known GenesNRD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110660
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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