A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997249



Internal ID16943515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:145214514..145258060hg38UCSC Ensembl
Outerchr1:144339401..144380600hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3843547
hg1941200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950889
Supporting Variants
SamplesBILGI_BIOE
Known GenesLINC00623, LOC100288142, LOC728875, PPIAL4A, PPIAL4B, PPIAL4C
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997249
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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