A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1113071



Internal ID19248725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:8433858..8441930hg38UCSC Ensembl
Outerchr1:8493918..8501990hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg388073
hg198073
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3982412, nssv3990233
SamplesKWS2, KWS1
Known GenesRERE
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1113071
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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