A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129872



Internal ID18921321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:180323911..180324176hg38UCSC Ensembl
Outerchr1:180293046..180293311hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv228n106
Supporting Variantsnssv3965007
SamplesKWS2
Known GenesACBD6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129872
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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