A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142788



Internal ID18913805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:202245972..202246472hg38UCSC Ensembl
Outerchr1:202215100..202215600hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv254n106
Supporting Variantsnssv3994292
SamplesKWS1
Known GenesLGR6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142788
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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