A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123400



Internal ID19265525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:148808420..148808474hg38UCSC Ensembl
Outerchr2:149565989..149566043hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2054n106
Supporting Variantsnssv3973159
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123400
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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