A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522917



Internal ID15103524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146749675..146997349hg38UCSC Ensembl
Innerchr7:146446767..146694441hg19UCSC Ensembl
Innerchr7:146077700..146325374hg18UCSC Ensembl
Innerchr7:145884415..146132089hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38247675
hg19247675
hg18247675
hg17247675
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698578
Samples
Known GenesCNTNAP2, MIR548AQ, MIR548AR
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522917
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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