A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6332269



Internal ID20865439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160388767..162811116hg38UCSC Ensembl
chr1:160358557..162780906hg19UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg382422350
hg192422350
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18200980
Samples
Known GenesADAMTS4, APOA2, ARHGAP30, ATF6, B4GALT3, C1orf111, C1orf192, C1orf226, CD244, CD48, CD84, DDR2, DEDD, DUSP12, F11R, FCER1G, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCRLA, FCRLB, HSD17B7, HSPA6, HSPA7, ITLN1, ITLN2, KLHDC9, LY9, MIR4654, MIR5187, MIR556, MPZ, NDUFS2, NIT1, NOS1AP, NR1I3, OLFML2B, PCP4L1, PFDN2, PPOX, PVRL4, RPL31P11, SDHC, SH2D1B, SLAMF1, SLAMF6, SLAMF7, TOMM40L, TSTD1, UAP1, UFC1, UHMK1, USF1, USP21, VANGL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6332269
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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