A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1074697



Internal ID18977011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148375707..148379229hg38UCSC Ensembl
chr7:148072799..148076321hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg383523
hg193523
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3764012
SamplesKWP1
Known GenesCNTNAP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1074697
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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