A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1127772



Internal ID18916761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:152339203..152339270hg38UCSC Ensembl
Outerchr2:153195717..153195784hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3956340
SamplesKWS1
Known GenesFMNL2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1127772
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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