A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv949966



Internal ID16952153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:143351408..143357207hg38UCSC Ensembl
Outerchr7:143048501..143054300hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg385800
hg195800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998607
SamplesBILGI_BIOE
Known GenesCLCN1, FAM131B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv949966
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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