A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1113211



Internal ID19285744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:200675675..200675749hg38UCSC Ensembl
Outerchr1:200644803..200644877hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3982683, nssv3968112
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1113211
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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