A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3970227



Internal ID19233993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:121020760..121020811hg38UCSC Ensembl
Outerchr1:149684119..149684171hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3852
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1133904
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3970227
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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