A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv955989



Internal ID16958176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:148365945..148366124hg38UCSC Ensembl
Outerchr7:148063037..148063216hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000992
SamplesBILGI_BIOE
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv955989
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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