A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523350



Internal ID15103957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:147990073..147990789hg38UCSC Ensembl
Innerchr7:147687165..147687881hg19UCSC Ensembl
Innerchr7:147318098..147318814hg18UCSC Ensembl
Innerchr7:147124813..147125529hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38717
hg19717
hg18717
hg17717
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699099
Samples
Known GenesCNTNAP2, MIR548F3, MIR548T
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523350
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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