A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3982669



Internal ID18869548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:186275794..186275858hg38UCSC Ensembl
Outerchr1:186244926..186244990hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1119743
Supporting Variants
SamplesKWS1
Known GenesMIR548F1, RNU6-72P
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3982669
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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