A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999193



Internal ID16945459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:495001..1132900hg38UCSC Ensembl
Outerchr16:545001..1182900hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38637900
hg19637900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952898
Supporting Variants
SamplesBILGI_BIOE
Known GenesC16orf11, C16orf13, C1QTNF8, CAPN15, CCDC78, CHTF18, FAM173A, FAM195A, FBXL16, GNG13, HAGHL, JMJD8, LINC00235, LMF1, METRN, MIR3176, MIR5587, MIR662, MSLN, NARFL, NHLRC4, PIGQ, PRR25, RAB11FIP3, RAB40C, RHBDL1, RHOT2, RPUSD1, SOX8, SSTR5, SSTR5-AS1, STUB1, WDR24, WDR90, WFIKKN1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999193
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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