A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130954



Internal ID19253466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:35808099..35808399hg38UCSC Ensembl
Outerchr1:36273700..36274000hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3967654
SamplesKWS2
Known GenesAGO4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130954
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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