A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998772



Internal ID16945038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:50115237..50222139hg38UCSC Ensembl
Outerchr17:48192601..48299500hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38106903
hg19106900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952339
Supporting Variants
SamplesBILGI_BIOE
Known GenesCOL1A1, HILS1, PPP1R9B, SAMD14, SGCA
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998772
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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