A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515672



Internal ID15443283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:50360828..50389835hg38UCSC Ensembl
Innerchr18:47887198..47916205hg19UCSC Ensembl
Innerchr18:46141196..46170203hg18UCSC Ensembl
Innerchr18:46141196..46170203hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3829008
hg1929008
hg1829008
hg1729008
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv691514, nssv684254, nssv675336, nssv690699, nssv661879, nssv676198, nssv672812, nssv691537, nssv689937, nssv691421, nssv667749, nssv692170, nssv683759, nssv660227, nssv676080, nssv680228, nssv688502, nssv679996, nssv680769, nssv659559, nssv665359, nssv678865, nssv677127, nssv681431, nssv687345, nssv681954, nssv674368, nssv691961, nssv687429, nssv669299, nssv660709, nssv685961, nssv685990, nssv696730, nssv682767, nssv665547, nssv698001, nssv684049, nssv686552, nssv664334
Samples
Known GenesSKA1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515672
Frequency
Sample Size2026
Observed Gain2
Observed Loss38
Observed Complex0
Frequencyn/a


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