A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954729



Internal ID17303602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:174594578..174594841hg38UCSC Ensembl
Outerchr2:175459306..175459569hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38264
hg19264
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3003830
SamplesBILGI_BIOE
Known GenesWIPF1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954729
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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