A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126629



Internal ID18919240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:27821412..27859212hg38UCSC Ensembl
Outerchr22:28217400..28255200hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg3837801
hg1937801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2452n106
Supporting Variantsnssv3984892
SamplesKWS1
Known GenesPITPNB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126629
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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