A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143895



Internal ID18908387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1052301..1052701hg38UCSC Ensembl
Outerchr19:1052300..1052700hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3994597
SamplesKWS1
Known GenesABCA7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143895
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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