A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118868



Internal ID19268430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:95346352..95346952hg38UCSC Ensembl
Outerchr2:96012100..96012700hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1972n106
Supporting Variantsnssv3981188
SamplesKWS1
Known GenesKCNIP3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118868
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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