A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143971



Internal ID19270122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:235669356..235671056hg38UCSC Ensembl
Outerchr2:236578000..236579700hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg381701
hg191701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2178n106
Supporting Variantsnssv3994683
SamplesKWS1
Known GenesAGAP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143971
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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