A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129632



Internal ID18914460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:179486459..179489161hg38UCSC Ensembl
Outerchr1:179455594..179458296hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg382703
hg192703
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv225n106
Supporting Variantsnssv3963908
SamplesKWS1
Known GenesAXDND1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129632
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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