A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005697



Internal ID18748228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:216231371..216429101hg38UCSC Ensembl
Innerchr2:217096094..217293824hg19UCSC Ensembl
Innerchr2:216804339..217002069hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38197731
hg19197731
hg18197731
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3586806
Samples
Known GenesMARCH4, SMARCAL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005697
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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