A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1111848



Internal ID19256673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:176509081..176509637hg38UCSC Ensembl
Outerchr1:176478217..176478773hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38557
hg19557
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv222n106
Supporting Variantsnssv3966189, nssv3962430
SamplesKWS2, KWS1
Known GenesPAPPA2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1111848
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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