A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030109



Internal ID18772640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:150615828..151003922hg38UCSC Ensembl
Innerchr7:150312916..150701010hg19UCSC Ensembl
Innerchr7:149943849..150331943hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38388095
hg19388095
hg18388095
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3674256
Samples
Known GenesAOC1, GIMAP1, GIMAP1-GIMAP5, GIMAP2, GIMAP5, GIMAP6, KCNH2, NOS3, TMEM176A, TMEM176B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030109
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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