A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126700



Internal ID19250209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:145937448..145938048hg38UCSC Ensembl
Outerchr4:146858600..146859200hg19UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984967
SamplesKWS1
Known GenesZNF827
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126700
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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