A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997038



Internal ID16943304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:135770355..136558248hg38UCSC Ensembl
Outerchr9:138662201..139452700hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38787894
hg19790500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951202
Supporting Variants
SamplesBILGI_BIOE
Known GenesC9orf163, C9orf69, CAMSAP1, CARD9, DKFZP434A062, DNLZ, GPSM1, INPP5E, KCNT1, LHX3, MIR4673, MIR4674, NACC2, NOTCH1, PMPCA, QSOX2, SDCCAG3, SEC16A, SNAPC4, UBAC1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997038
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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