A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114123



Internal ID19284772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:106069120..106069175hg38UCSC Ensembl
Outerchr2:106685576..106685631hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3956311, nssv3973604
SamplesKWS2, KWS1
Known GenesC2orf40
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114123
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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