A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138894



Internal ID18909019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:225553795..225553913hg38UCSC Ensembl
Outerchr2:226418511..226418629hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3991504
SamplesKWS2
Known GenesNYAP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138894
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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