A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3757712



Internal ID18709307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144804690..146260365hg38UCSC Ensembl
Innerchr7:144501783..145957457hg19UCSC Ensembl
Innerchr7:144132716..145588390hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381455676
hg191455675
hg181455675
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1026834
Supporting Variants
Samples
Known GenesCNTNAP2, TPK1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3757712
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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