A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv499446



Internal ID15468806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148375771..148379235hg38UCSC Ensembl
chr7:148072863..148076327hg19UCSC Ensembl
chr7:147703796..147707260hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg383465
hg193465
hg183465
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv586056
Samples
Known GenesCNTNAP2
MethodSequencing
AnalysisFor each individuals we constructed a whole genomic library of approximately 1 million clones using a fosdmid subcloning strategy Paried end sequences from each clone were sequenced and searched against NCBI build35. Individual fosmid clones corresponding to regions of structural difference relative to the genome reference were selected and sequenced. The breakpoints determined from complete fosmid sequencing are given using the NCBI build36 genome assembly.
PlatformCapillary
Comments
ReferenceKidd_et_al_2010b
Pubmed ID21111241
Accession Number(s)nsv499446
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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