A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121713



Internal ID18928847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:147010816..147207577hg38UCSC Ensembl
Outerchr1:146482375..146679136hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38196762
hg19196762
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3980581, nssv3967607
SamplesKWS1, KWS2
Known GenesFMO5, LOC728989, NBPF13P, PDIA3P1, PRKAB2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121713
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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