A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047029



Internal ID18789560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46526513..46962260hg38UCSC Ensembl
Innerchr10:46590219..47055642hg19UCSC Ensembl
Innerchr10:46010225..46475648hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38435748
hg19465424
hg18465424
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv740n100
Supporting Variantsnssv3519106, nssv3707832, nssv3515160, nssv3506229, nssv3511090
Samples
Known GenesBMS1P1, BMS1P5, FAM35BP, FRMPD2P1, GLUD1P7, GPRIN2, PTPN20A, PTPN20B, SYT15
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047029
Frequency
Sample Size29084
Observed Gain3
Observed Loss2
Observed Complex0
Frequencyn/a


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