A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133478



Internal ID19267978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:98935837..98936437hg38UCSC Ensembl
Outerchr2:99552300..99552900hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3969429, nssv3994657
SamplesKWS2, KWS1
Known GenesKIAA1211L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133478
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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