A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130272



Internal ID18923035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:180323854..180324178hg38UCSC Ensembl
Outerchr1:180292989..180293313hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv228n106
Supporting Variantsnssv3966190, nssv3982510
SamplesKWS2, KWS1
Known GenesACBD6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130272
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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