A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058710



Internal ID19147929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46144772..46286792hg38UCSC Ensembl
Innerchr17:44222138..44364158hg19UCSC Ensembl
Innerchr17:41577915..41719935hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38142021
hg19142021
hg18142021
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3195n100
Supporting Variantsnssv3724158, nssv3724156, nssv3724169, nssv3556793, nssv3724151, nssv3556790, nssv3724171, nssv3724167, nssv3724147, nssv3724154, nssv3724170, nssv3724160, nssv3724157, nssv3556794, nssv3724153, nssv3724152, nssv3724162, nssv3724148, nssv3556791, nssv3556792, nssv3724165, nssv3724163, nssv3724168, nssv3724164, nssv3556796, nssv3724146, nssv3724161, nssv3724149, nssv3724159, nssv3724155, nssv3724166, nssv3724150, nssv3556795
Samples
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058710
Frequency
Sample Size11257
Observed Gain12
Observed Loss21
Observed Complex0
Frequencyn/a


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