A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1131923



Internal ID19281247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:166683488..166683549hg38UCSC Ensembl
Outerchr5:166110493..166110554hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3986538
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1131923
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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