A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2996979



Internal ID17289931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:127612122..127613121hg38UCSC Ensembl
Outerchr9:130374401..130375400hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951767
Supporting Variants
SamplesBILGI_BIOE
Known GenesSTXBP1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2996979
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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