A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3764012



Internal ID19310471
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 StatusS
Merged Variantsnsv1074697
Supporting Variants
SamplesKWP1
Known GenesCNTNAP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3764012
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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