A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1076013



Internal ID18976849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148006706..148010166hg38UCSC Ensembl
chr7:147703798..147707258hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg383461
hg193461
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3771475
SamplesKWP1
Known GenesCNTNAP2, MIR548F3, MIR548T
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1076013
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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