A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997148



Internal ID16943414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:899421..1094520hg38UCSC Ensembl
Outerchr1:834801..1029900hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38195100
hg19195100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950451
Supporting Variants
SamplesBILGI_BIOE
Known GenesAGRN, C1orf159, C1orf170, HES4, ISG15, KLHL17, LOC100130417, NOC2L, PLEKHN1, RNF223, SAMD11
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997148
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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