A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126717



Internal ID19279747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:170135523..170135810hg38UCSC Ensembl
Outerchr2:170992033..170992320hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38288
hg19288
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2091n106
Supporting Variantsnssv3984984
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126717
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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