A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143970



Internal ID19275804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:235493756..235494856hg38UCSC Ensembl
Outerchr2:236402400..236403500hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg381101
hg191101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2177n106
Supporting Variantsnssv3994682
SamplesKWS1
Known GenesAGAP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143970
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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