A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv691783



Internal ID15428435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146528356..146557416hg38UCSC Ensembl
Innerchr7:146225448..146254508hg19UCSC Ensembl
Innerchr7:145856381..145885441hg18UCSC Ensembl
Innerchr7:145663096..145692156hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3829061
hg1929061
hg1829061
hg1729061
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515777
Supporting Variants
Samples
Known GenesCNTNAP2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv691783
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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