A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021967



Internal ID19111185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146502498..146716716hg38UCSC Ensembl
Innerchr7:146199590..146413808hg19UCSC Ensembl
Innerchr7:145830523..146044741hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38214219
hg19214219
hg18214219
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6746n100
Supporting Variantsnssv3674195
Samples
Known GenesCNTNAP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1021967
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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