A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv951385



Internal ID16953572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:100467278..100496477hg38UCSC Ensembl
Outerchr7:100064901..100094100hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3829200
hg1929200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998551
SamplesBILGI_BIOE
Known GenesNYAP1, TSC22D4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv951385
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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